Intellectual and development disabilities (IDDs) are differences, usually present at birth, that affect an individual’s physical, intellectual, and/or emotional development. The problems are usually life-long, and can affect multiple body parts or systems. Learn more about IDDs and how therapy can help.
A student with Down syndrome smiles at the camera while studying
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Overview
What should I do if I think my child has an intellectual and developmental disabilities (IDDs)?
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What should I do if I think my child has an intellectual and developmental disabilities (IDDs)?
Boatswain's Mate 1st Class Kency Welly, assigned to the amphibious dock landing ship USS Germantown (LSD 42), plays with a child from the Association For the Welfare of the Disabled Day Care Center during a community service project. The association provides many services including physiotherapy, basic education and referrals for further medical and rehabilitative management for more then 990 persons living with disabilities of all ages.
Image by Official Navy Page from United States of America N. Ross Taylor/U.S. Navy
What Are Intellectual and Developmental Disabilities (IDDs)?
IDDs are differences that are usually present at birth and that uniquely affect the trajectory of the individual’s physical, intellectual, and/or emotional development. Many of these conditions affect multiple body parts or systems.
Intellectual disability starts any time before a child turns 18 and is characterized by differences with both:
Intellectual functioning or intelligence, which include the ability to learn, reason, problem solve, and other skills; and
Adaptive behavior, which includes everyday social and life skills.
The term "developmental disabilities" is a broader category of often lifelong challenges that can be intellectual, physical, or both.
"IDD" is the term often used to describe situations in which intellectual disability and other disabilities are present.
It might be helpful to think about IDDs in terms of the body parts or systems they affect or how they occur. For example:
Nervous system These disorders affect how the brain, spinal cord, and nervous system function, which can affect intelligence and learning. These conditions can also cause other issues, such as behavioral disorders, speech or language difficulties, seizures, and trouble with movement. Cerebral palsy,Down syndrome, Fragile X syndrome, and autism spectrum disorders (ASDs) are examples of IDDs related to problems with the nervous system.
Sensory system These disorders affect the senses (sight, hearing, touch, taste, and smell) or how the brain processes or interprets information from the senses. Preterm infants and infants exposed to infections, such as cytomegalovirus, may have reduced function with their eyesight and/or hearing. In addition, being touched or held can be difficult for people with ASDs.
Metabolism These disorders affect how the body uses food and other materials for energy and growth. For example, how the body breaks down food during digestion is a metabolic process. Problems with these processes can upset the balance of materials available for the body to function properly. Too much of one thing, or too little of another can disrupt overall body and brain functions. Phenylketonuria (PKU) and congenital hypothyroidism are examples of metabolic conditions that can lead to IDDs.
Degenerative Individuals with degenerative disorders may seem or be typical at birth and may meet usual developmental milestones for a time, but then they experience disruptions in skills, abilities, and functions because of the condition. In some cases, the disorder may not be detected until the child is an adolescent or adult and starts to show symptoms or lose abilities. Some degenerative disorders result from other conditions, such as untreated problems of metabolism.
The exact definition of IDD, as well as the different types or categories of IDD, may vary depending on the source of the information.
For example, within the context of education and the Individuals with Disabilities Education Act (IDEA), a law that aims to ensure educational services to children with disabilities throughout the nation, the definition of IDD and the types of conditions that are considered IDD might be different from the definitions and categories used by the Social Security Administration (SSA) to provide services and support for those with disabilities. These definitions and categories might also be different from those used by healthcare providers and researchers.
Source: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Additional Materials (2)
Developmental Disabilities
Video by Parent Network of WNY/YouTube
Common Developmental Disabilities in Children
Video by AllHealthGo/YouTube
3:53
Developmental Disabilities
Parent Network of WNY/YouTube
1:54
Common Developmental Disabilities in Children
AllHealthGo/YouTube
Facts About Intellectual Disability
World Down Syndrome Day
Image by PX41-Media
World Down Syndrome Day
World Down Syndrome Day
Image by PX41-Media
Facts About Intellectual Disability
What is intellectual disability?
Intellectual disability is a term used when there are limits to a person’s ability to learn at an expected level and function in daily life. Levels of intellectual disability vary greatly in children. Children with intellectual disability might have a hard time letting others know their wants and needs, and taking care of themselves. Intellectual disability could cause a child to learn and develop more slowly than other children of the same age. It could take longer for a child with intellectual disability to learn to speak, walk, dress, or eat without help, and they could have trouble learning in school.
Intellectual disability can be caused by a problem that starts any time before a child turns 18 years old – even before birth. It can be caused by injury, disease, or a problem in the brain. For many children, the cause of their intellectual disability is not known. Some of the most common known causes of intellectual disability – like Down syndrome, fetal alcohol syndrome, fragile X syndrome, genetic conditions, birth defects, and infections – happen before birth. Others happen while a baby is being born or soon after birth. Still other causes of intellectual disability do not occur until a child is older; these might include serious head injury, stroke, or certain infections.
What are some of the signs of intellectual disability?
Usually, the more severe the degree of intellectual disability, the earlier the signs can be noticed. However, it might still be hard to tell how young children will be affected later in life.
There are many signs of intellectual disability. For example, children with intellectual disability may:
sit up, crawl, or walk later than other children
learn to talk later, or have trouble speaking
find it hard to remember things
have trouble understanding social rules
have trouble seeing the results of their actions
have trouble solving problems
What can I do if I think my child may have intellectual disability?
Talk with your child’s doctor or nurse. If you or your doctor think there could be a problem, you can take your child to see a developmental pediatrician or other specialist, and you can contact your local early intervention agency (for children under 3) or public school (for children 3 and older). To find out who to speak to in your area, you can contact the Parent Center in your state: www.parentcenterhub.org/find-yourcenter/.
To help your child reach his or her full potential, it is very important to get help for him or her as early as possible!
Source: Centers for Disease Control and Prevention (CDC)
Additional Materials (2)
Intellectual Disabilities
Video by Colleen McBrien/YouTube
Addressing Gaps in Health Care for Individuals with Intellectual Disabilities
Video by Centers for Disease Control and Prevention (CDC)/YouTube
5:06
Intellectual Disabilities
Colleen McBrien/YouTube
57:39
Addressing Gaps in Health Care for Individuals with Intellectual Disabilities
Centers for Disease Control and Prevention (CDC)/YouTube
Facts About Developmental Disabilities
2 years milestones social and emotional - Copies others, especially adults and older children
Image by CDC
2 years milestones social and emotional - Copies others, especially adults and older children
2 years milestones social and emotional - Copies others, especially adults and older children
Image by CDC
Facts About Developmental Disabilities
Developmental disabilities are a group of conditions due to an impairment in physical, learning, language, or behavior areas. These conditions begin during the developmental period, may impact day-to-day functioning, and usually last throughout a person’s lifetime.
Developmental Milestones
Developmental monitoring is an active, ongoing process of watching a child grow and encouraging conversations between parents and providers about a child’s skills and abilities. Developmental monitoring involves observing how your child grows and whether your child meets the typical developmental milestones, or skills that most children reach by a certain age, in playing, learning, speaking, behaving, and moving.
Parents, grandparents, early childhood education providers, and other caregivers can participate in developmental monitoring. CDC’s Learn the Signs. Act Early. program has developed free materials, including CDC’s Milestone Tracker app, to help parents and providers work together to monitor your child’s development and know when there might be a concern and if more screening is needed. You can use a brief checklist of milestones to see how your child is developing. If you notice that your child is not meeting milestones, talk with your doctor or nurse about your concerns and ask about developmental screening. Learn more about CDC Milestone Tracker app, milestone checklists, and other parent materials.
When you take your child to a well visit, your doctor or nurse will also do developmental monitoring. The doctor or nurse might ask you questions about your child’s development or will talk and play with your child to see if they are developing and meeting milestones.
Your doctor or nurse may also ask about your child’s family history. Be sure to let your doctor or nurse know about any conditions that your child’s family members have, including ASD, learning disorders, intellectual disability, or attention deficit/hyperactivity disorder (ADHD).
Developmental Monitoring and Screening
Developmental screening takes a closer look at how your child is developing.
Developmental screening is more formal than developmental monitoring. It is a regular part of some well-child visits even if there is not a known concern.
The American Academy of Pediatrics (AAP) recommends developmental and behavioral screening for all children during regular well-child visits at these ages:
9 months
18 months
30 months
In addition, AAP recommends that all children be screened specifically for ASD during regular well-child visits at these ages:
18 months
24 months
Screening questionnaires and checklists are based on research that compares your child to other children of the same age. Questions may ask about language, movement, and thinking skills, as a well as behaviors and emotions. Developmental screening can be done by a doctor or nurse, or other professionals in healthcare, community, or school settings. Your doctor may ask you to complete a questionnaire as part of the screening process. Screening at times other than the recommended ages should be done if you or your doctor have a concern. Additional screening should also be done if a child is at high risk for ASD (for example, having a sibling or other family member with ASD) or if behaviors sometimes associated with ASD are present. If your child’s healthcare provider does not periodically check your child with a developmental screening test, you can ask that it be done.
Source: Centers for Disease Control and Prevention (CDC)
Additional Materials (1)
Common Developmental Disabilities in Children
Video by AllHealthGo/YouTube
1:54
Common Developmental Disabilities in Children
AllHealthGo/YouTube
Measures of Intelligence
Young male student writing at desk
Image by NIMH Image Library
Young male student writing at desk
Image by NIMH Image Library
Measures of Intelligence
It seems that the human understanding of intelligence is somewhat limited when we focus on traditional or academic-type intelligence. How then, can intelligence be measured? And when we measure intelligence, how do we ensure that we capture what we’re really trying to measure (in other words, that IQ tests function as valid measures of intelligence)?
The IQ test has been synonymous with intelligence for over a century. In the late 1800s, Sir Francis Galton developed the first broad test of intelligence (Flanagan & Kaufman, 2004). Although he was not a psychologist, his contributions to the concepts of intelligence testing are still felt today (Gordon, 1995). Reliable intelligence testing (you may recall from earlier chapters that reliability refers to a test’s ability to produce consistent results) began in earnest during the early 1900s with a researcher named Alfred Binet (Figure 7.13). Binet was asked by the French government to develop an intelligence test to use on children to determine which ones might have difficulty in school; it included many verbally based tasks. American researchers soon realized the value of such testing. Louis Terman, a Stanford professor, modified Binet’s work by standardizing the administration of the test and tested thousands of different-aged children to establish an average score for each age. As a result, the test was normed and standardized, which means that the test was administered consistently to a large enough representative sample of the population that the range of scores resulted in a bell curve (bell curves will be discussed later). Standardization means that the manner of administration, scoring, and interpretation of results is consistent. Norming involves giving a test to a large population so data can be collected comparing groups, such as age groups. The resulting data provide norms, or referential scores, by which to interpret future scores. Norms are not expectations of what a given group should know but a demonstration of what that group does know. Norming and standardizing the test ensures that new scores are reliable. This new version of the test was called the Stanford-Binet Intelligence Scale (Terman, 1916). Remarkably, an updated version of this test is still widely used today.
Figure 7.13 French psychologist Alfred Binet helped to develop intelligence testing. (b) This page is from a 1908 version of the Binet-Simon Intelligence Scale. Children being tested were asked which face, of each pair, was prettier.
In 1939, David Wechsler, a psychologist who spent part of his career working with World War I veterans, developed a new IQ test in the United States. Wechsler combined several subtests from other intelligence tests used between 1880 and World War I. These subtests tapped into a variety of verbal and nonverbal skills, because Wechsler believed that intelligence encompassed “the global capacity of a person to act purposefully, to think rationally, and to deal effectively with his environment” (Wechsler, 1958, p. 7). He named the test the Wechsler-Bellevue Intelligence Scale (Wechsler, 1981). This combination of subtests became one of the most extensively used intelligence tests in the history of psychology. Although its name was later changed to the Wechsler Adult Intelligence Scale (WAIS) and has been revised several times, the aims of the test remain virtually unchanged since its inception (Boake, 2002). Today, there are three intelligence tests credited to Wechsler, the Wechsler Adult Intelligence Scale-fourth edition (WAIS-IV), the Wechsler Intelligence Scale for Children (WISC-V), and the Wechsler Preschool and Primary Scale of Intelligence—IV (WPPSI-IV) (Wechsler, 2012). These tests are used widely in schools and communities throughout the United States, and they are periodically normed and standardized as a means of recalibration. As a part of the recalibration process, the WISC-V was given to thousands of children across the country, and children taking the test today are compared with their same-age peers (Figure 7.13).
The WISC-V is composed of 14 subtests, which comprise five indices, which then render an IQ score. The five indices are Verbal Comprehension, Visual Spatial, Fluid Reasoning, Working Memory, and Processing Speed. When the test is complete, individuals receive a score for each of the five indices and a Full Scale IQ score. The method of scoring reflects the understanding that intelligence is comprised of multiple abilities in several cognitive realms and focuses on the mental processes that the child used to arrive at their answers to each test item.
Interestingly, the periodic recalibrations have led to an interesting observation known as the Flynn effect. Named after James Flynn, who was among the first to describe this trend, the Flynn effect refers to the observation that each generation has a significantly higher IQ than the last. Flynn himself argues, however, that increased IQ scores do not necessarily mean that younger generations are more intelligent per se (Flynn, Shaughnessy, & Fulgham, 2012).
Ultimately, we are still left with the question of how valid intelligence tests are. Certainly, the most modern versions of these tests tap into more than verbal competencies, yet the specific skills that should be assessed in IQ testing, the degree to which any test can truly measure an individual’s intelligence, and the use of the results of IQ tests are still issues of debate (Gresham & Witt, 1997; Flynn, Shaughnessy, & Fulgham, 2012; Richardson, 2002; Schlinger, 2003).
WHAT DO YOU THINK?
Capital Punishment and People with Intellectual Disabilities
The case of Atkins v. Virginia was a landmark case in the United States Supreme Court. On August 16, 1996, two men, Daryl Atkins and William Jones, robbed, kidnapped, and then shot and killed Eric Nesbitt, a local airman from the U.S. Air Force. A clinical psychologist evaluated Atkins and testified at the trial that Atkins had an IQ of 59. The mean IQ score is 100. The psychologist concluded that Atkins had an intellectual disability.
The jury found Atkins guilty, and he was sentenced to death. Atkins and his attorneys appealed to the Supreme Court. In June 2002, the Supreme Court reversed a previous decision and ruled that executions of people with intellectual disabilities are ‘cruel and unusual punishments’ prohibited by the Eighth Amendment. Using the accepted language of the time, the court wrote in their decision:
Clinical definitions of mental retardation require not only subaverage intellectual functioning, but also significant limitations in adaptive skills. Mentally retarded persons frequently know the difference between right and wrong and are competent to stand trial. Because of their impairments, however, by definition they have diminished capacities to understand and process information, to communicate, to abstract from mistakes and learn from experience, to engage in logical reasoning, to control impulses, and to understand others’ reactions. Their deficiencies do not warrant an exemption from criminal sanctions, but diminish their personal culpability (Atkins v. Virginia, 2002, par. 5).
The court also decided that there was a state legislature consensus against the execution of people with intellectual disabilities and that this consensus should stand for all of the states. The Supreme Court ruling left it up to the states to determine their own definitions of intellectual disability. The definitions vary among states as to who can be executed. In the Atkins case, a jury decided that because he had many contacts with his lawyers and thus was provided with intellectual stimulation, his IQ had reportedly increased to a level where the state could execute him. He was given an execution date and then received a stay of execution after it was revealed that lawyers for co-defendant, William Jones, coached Jones to “produce a testimony against Mr. Atkins that did match the evidence” (Liptak, 2008). After the revelation of this misconduct, Atkins was re-sentenced to life imprisonment.
Atkins v. Virginia (2002) highlights several issues regarding society’s beliefs around intelligence. In the Atkins case, the Supreme Court decided that intellectual disability does affect decision making and therefore should affect the nature of the punishment such criminals receive. Where, however, should the lines of intellectual disability be drawn? In May 2014, the Supreme Court ruled in a related case (Hall v. Florida) that IQ scores cannot be used as a final determination of a prisoner’s eligibility for the death penalty (Roberts, 2014).
The Bell Curve
The results of intelligence tests follow the bell curve, a graph in the general shape of a bell. When the bell curve is used in psychological testing, the graph demonstrates a normal distribution of a trait, in this case, intelligence, in the human population. Many human traits naturally follow the bell curve. For example, if you lined up all your female schoolmates according to height, it is likely that a large cluster of them would be the average height for an American woman: 5’4”–5’6”. This cluster would fall in the center of the bell curve, representing the average height for American women (Figure 7.14). There would be fewer women who stand closer to 4’11”. The same would be true for women of above-average height: those who stand closer to 5’11”. The trick to finding a bell curve in nature is to use a large sample size. Without a large sample size, it is less likely that the bell curve will represent the wider population. A representative sample is a subset of the population that accurately represents the general population. If, for example, you measured the height of the women in your classroom only, you might not actually have a representative sample. Perhaps the women’s basketball team wanted to take this course together, and they are all in your class. Because basketball players tend to be taller than average, the women in your class may not be a good representative sample of the population of American women. But if your sample included all the women at your school, it is likely that their heights would form a natural bell curve.
Figure 7.14 Are you of below-average, average, or above-average height?
The same principles apply to intelligence tests scores. Individuals earn a score called an intelligence quotient (IQ). Over the years, different types of IQ tests have evolved, but the way scores are interpreted remains the same. On most IQ tests, the average (or mean) IQ score is 100. Standard deviations describe how data are dispersed in a population and give context to large data sets. The bell curve uses the standard deviation to show how all scores are dispersed from the average score (Figure 7.15). In modern IQ testing, one standard deviation is 15 points. So a score of 85 would be described as “one standard deviation below the mean.” How would you describe a score of 115 and a score of 70? Any IQ score that falls within one standard deviation above and below the mean (between 85 and 115) is considered average, and 68% of the population has IQ scores in this range. An IQ score of 130 or above is considered a superior level.
Figure 7.15 The majority of people have an IQ score between 85 and 115.
Only 2.2% of the population has an IQ score below 70 (American Psychiatric Association [APA], 2013). If a person earns a score approximately two standard deviations below the mean on an intelligence test, (about 70 on a test with a mean of 100), has major deficits in adaptive functioning, and these cognitive and adaptive deficits were present before the age of 18, they could be diagnosed as having an intellectual disability (ID). Formerly known as mental retardation, the accepted term now is intellectual disability, and it has four subtypes: mild, moderate, severe, and profound (Table 7.4). The Diagnostic and Statistical Manual of Psychological Disorders lists criteria for each subgroup (APA, 2013).
Characteristics of Cognitive Disorders
Intellectual Disability Subtype
Percentage of Population with Intellectual Disabilities
Description
Mild
85%
3rd- to 6th-grade skill level in reading, writing, and math; may be employed and live independently
Moderate
10%
Basic reading and writing skills; functional self-care skills; requires some oversight
Severe
5%
Functional self-care skills; requires oversight of daily environment and activities
Profound
<1%
May be able to communicate verbally or nonverbally; requires intensive oversight
Table 7.4
On the other end of the intelligence spectrum are those individuals whose IQs fall into the highest ranges. Consistent with the bell curve, about 2% of the population falls into this category. People are considered to have a higher aptitude for learning (and may be classified as "gifted" within educational systems) if they have an IQ score of 130 or higher, or superior intelligence in a particular area. Long ago, popular belief suggested that people of high intelligence were maladjusted. This idea was disproven through a groundbreaking study of these children. In 1921, Lewis Terman began a longitudinal study of over 1500 children with IQs over 135 (Terman, 1925). His findings showed that these children became well-educated, successful adults who were, in fact, well-adjusted (Terman & Oden, 1947). Additionally, Terman’s study showed that the subjects were above average in physical build and attractiveness, dispelling an earlier popular notion that highly intelligent people were “weaklings.” Some people with very high IQs elect to join Mensa, an organization dedicated to identifying, researching, and fostering intelligence. Members must have an IQ score in the top 2% of the population, and they may be required to pass other exams in their application to join the group.
DIG DEEPER
What’s in a Name? Intellectual Disabilities
In the past, individuals with IQ scores below 70 and significant adaptive and social functioning delays were diagnosed with mental retardation. When this diagnosis was first named, it was replacing more negative and insensitive terms, and the title held no social stigma; several prominent research and support organizations even used the word in their names and mission statements. However, members of those populations as well as their families and supporting professionals found that the term was not only inaccurate, but demeaning and insulting. As such, the DSM-5 now labels this diagnosis as “intellectual disability.” Many states once had a Department of Mental Retardation to serve those diagnosed with such cognitive delays, but most have changed their name to Department of Developmental Disabilities or something similar in language. Due to the passage of "Rosa's Law" in 2010 and to the growing support for changing the terminology, most U.S. federal agencies formally adopted the words "intellectual disability." While the change was widely supported, you can view in the Federal Register several counterpoints from parents of people with intellectual disabilities, who felt that the new term was imprecise and less applicable to their children. Earlier in the chapter, we discussed how language affects how we think. Do you think changing the title of this department has any impact on how people regard those with developmental disabilities? Does a different name give people more dignity, and if so, how? Do you think the terminology is likely to change again? Why or why not?
Why Measure Intelligence?
The value of IQ testing is most evident in educational or clinical settings. Children who seem to be experiencing learning difficulties or severe behavioral problems can be tested to ascertain whether the child’s difficulties can be partly attributed to an IQ score that is significantly different from the mean for their age group. Without IQ testing—or another measure of intelligence—children and adults needing extra support might not be identified effectively. In addition, IQ testing is used in courts to determine whether a defendant has special or extenuating circumstances that preclude them from participating in some way in a trial. People also use IQ testing results to seek disability benefits from the Social Security Administration.
The following case study demonstrates the usefulness and benefits of IQ testing. Candace, a 14-year-old girl experiencing problems at school in Connecticut, was referred for a court-ordered psychological evaluation. She was in regular education classes in ninth grade and was failing every subject. Candace had never been a stellar student but had always been passed to the next grade. Frequently, she would curse at any of her teachers who called on her in class. She also got into fights with other students and occasionally shoplifted. When she arrived for the evaluation, Candace immediately said that she hated everything about school, including the teachers, the rest of the staff, the building, and the homework. Her parents stated that they felt their daughter was picked on, because she was of a different ethnicity than the teachers and most of the other students. When asked why she cursed at her teachers, Candace replied, “They only call on me when I don’t know the answer. I don’t want to say, ‘I don’t know’ all of the time and look like an idiot in front of my friends. The teachers embarrass me.” She was given a battery of tests, including an IQ test. Her score on the IQ test was 68. What does Candace’s score say about her ability to excel or even succeed in regular education classes without assistance? Why were her difficulties never noticed or addressed?
Despite evidence for the value of intelligence and related evaluations, the methods and interpretations of these tests are continually evolving. Researchers such as Jack A. Naglieri (2020) have developed or improved on testing programs in order to make them more accurate, equitable, and useful. Beyond new testing instruments, some researchers demonstrate value in differentiating tests for different age groups, abilities, and contexts.
Source: CNX OpenStax
Additional Materials (1)
Controversy of Intelligence: Crash Course Psychology #23
Video by CrashCourse/YouTube
12:39
Controversy of Intelligence: Crash Course Psychology #23
CrashCourse/YouTube
Risk Factors
2 yr old child with severe developmental delay- Fragile-X syndrome?
Image by Sadasiv Swain
2 yr old child with severe developmental delay- Fragile-X syndrome?
2 yr old child with severe developmental delay- Fragile-X syndrome?
Image by Sadasiv Swain
How Many People Are Affected/At Risk for IDDs?
The exact number of people affected by intellectual and developmental disabilities (IDDs) is unknown. This is because IDDs cover a wide range of conditions, many of which are diagnosed several years after birth, rather than in newborns.
Current estimates suggest that 2% to 3% of children in the United States have some form of intellectual disability.
According to the Centers for Disease Control and Prevention (CDC), about 1 in 33 newborns (or 3%) in the United States are born with conditions related to problems in prenatal development.
Source: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Causes
adult with fetal alcohol syndrome
Image by Newenglandjrnl
adult with fetal alcohol syndrome
adult with fetal alcohol syndrome
Image by Newenglandjrnl
What Causes IDDs?
Intellectual and developmental disabilities (IDDs) have a variety of causes. Some possible causes include (but are not limited to):
Genetic mutations, additions, or deletions: for example, most cases of Rett syndrome are caused by a change in the Methly-CpG-binding Protein 2 (MECP2) gene
Chromosome abnormalities, such as an extra chromosome or a missing chromosome: for example, Down syndrome [link to topic] results from having an extra copy or part of a copy of chromosome 21
Exposure to certain substances while in the womb: for example, exposure to alcohol while in the womb can result in fetal alcohol spectrum disorder
Infections during pregnancy: for example, infants whose mothers had cytomegalovirus during pregnancy may have hearing, vision, and neurological problems
Problems during childbirth: for example, an umbilical cord that gets wrapped around a baby’s neck during delivery could cut off the supply of blood and oxygen to the brain resulting in IDDs
Traumatic Brain Injury (TBI)
Preterm birth
Source: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Additional Materials (1)
Neurodevelopmental disorders: Sufficient and necessary causes | NCLEX-RN | Khan Academy
Video by khanacademymedicine/YouTube
10:49
Neurodevelopmental disorders: Sufficient and necessary causes | NCLEX-RN | Khan Academy
khanacademymedicine/YouTube
Developmental Disabilities and the Environment
Sources of Lead in Drinking Water - EPA
Image by U.S. Environmental Protection Agency, Washington, D.C./Wikimedia
Sources of Lead in Drinking Water - EPA
Illustration of sources of lead in drinking water in residential buildings in the U.S. Cropped from larger illustration.
Image by U.S. Environmental Protection Agency, Washington, D.C./Wikimedia
Developmental Disabilities and the Environment
People are exposed to a wide range of chemicals during their lives. Chemicals are present in food, clothes, furniture, housing materials, and more. Evidence suggests that many chemicals cause damage to the central nervous system which can impact developmental disabilities. However, much of this evidence is based on studies of groups accidentally exposed or workers exposed to levels above those found in the environment.
Avoiding or reducing children's exposure to harmful chemicals may help prevent some developmental disabilities. Mostscientific studies about how the environment may impact developmental disabilities have been focused on intellectual disabilities and autism spectrum disorders (ASDs).
Intellectual Disabilities
Exposures to lead, polychlorinated biphenyls (PCBs), and methylmercury are well-documented risk factors for intellectual disabilities.
Autism Spectrum Disorders
We do not know all of the causes of ASDs. However, we have learned that there are likely many causes for multipletypes of ASDs. There may be many different factors that make a child more likely to have an ASD, including environmental,biologic and genetic factors.
There is still a lot to learn about environmental contributors to autism and research into some environmental factors is underway.
Source: Centers for Disease Control and Prevention (CDC)
Additional Materials (4)
Child Development Resilience and the Environment: An Ecological Perspective
Video by University of California Television (UCTV)/YouTube
Lead: Protecting Children from Lead Poisoning
Video by Paul Cochrane/YouTube
Diagnosis of Methylmercury Poisoning from Seafood Consumption
Video by Stony Brook University/YouTube
Can a Vaccine Cause Autism? | Autism
Video by Howcast/YouTube
33:53
Child Development Resilience and the Environment: An Ecological Perspective
University of California Television (UCTV)/YouTube
3:34
Lead: Protecting Children from Lead Poisoning
Paul Cochrane/YouTube
22:54
Diagnosis of Methylmercury Poisoning from Seafood Consumption
Stony Brook University/YouTube
3:09
Can a Vaccine Cause Autism? | Autism
Howcast/YouTube
Symptoms
infant Brain Development
Image by TheVisualMD
infant Brain Development
infant Brain Development
Image by TheVisualMD
What Are the Signs of IDDs?
The signs of intellectual and development disabilities (IDDs) vary for particular conditions.
IDDs that are more severe may show up sooner. Some of the signs of IDD may include:
Sitting up, crawling, or walking later than other children of similar age
Learning to talk later or having difficulty speaking
Finding it hard to remember things
Having trouble understanding the rules of social behavior
Having difficulty "seeing" or understanding the outcomes of actions
Having trouble solving problems
Developmental milestones can be monitored to identify delays (e.g., in walking or talking) that could indicate an IDD.
Source: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Additional Materials (1)
Early Signs of a Learning Disability or Learning Disorder
Video by Mayo Clinic/YouTube
3:22
Early Signs of a Learning Disability or Learning Disorder
Mayo Clinic/YouTube
Screening
Developmental and Behavioral Screening Tests
Developmental and behavioral screening tests look at how a child is developing. If a child is developing more slowly than other children of the same age, it may indicate a development disability. Early treatment for these disabilities can have a big impact on a child's life.
Developmental and Behavioral Screening Tests
Developmental and behavioral screening tests look at how a child is developing. If a child is developing more slowly than other children of the same age, it may indicate a development disability. Early treatment for these disabilities can have a big impact on a child's life.
Developmental and behavioral screening tests look at how a child is developing. The screenings are made up of checklists and questionnaires for parents. They include questions about their child's language, movement, thinking, behavior, and emotions.
Many of the questions are based on developmental milestones. Developmental milestones are skills and behaviors that show up in babies and children at certain ages as they grow. They include smiling for the first time, rolling over, and walking. The screening compares your child's milestones to those of other children of the same age. If the screening shows your child is developing at a slower rate, it may be a sign of a developmental disability. Developmental disabilities are conditions that cause problems in physical and/or mental functions. They include:
Intellectual disabilities (ID). These conditions cause below average mental abilities. People with ID often have problems with learning and daily living skills.
Autism spectrum disorder. This is a disorder that affects behavior, communication, and social skills.
Cerebral palsy. This is a condition that affects movement, coordination, and balance.
Deafness or other hearing problems
Developmental and behavioral screening tests don't diagnose these conditions. But a screening can show if your child is not developing on schedule. When developmental disabilities are found and treated early, it can make a big impact on a child's life. Early treatment, known as early intervention, helps children learn important skills, make the most of their strengths, and improve their quality of life.
Developmental and behavioral screening tests are used to see if a child is meeting his or her developmental milestones. Below are some examples of milestones for infants and toddlers.
Birth to 4 months Includes smiling, cooing, and bringing hands to mouth.
6 months. Includes playing with others, looking at themselves in the mirror, sitting without support, and rolling over.
9 months. Includes making sounds like "mama" and "dada," understanding the word "no," crawling, and pulling to a stand.
1 year. Includes playing peekaboo, following simple directions, and walking while holding on to furniture.
18 months. Includes speaking and understanding several words, eating with a spoon, walking, and walking up and down stairs.
2 to 3 years. Includes recognizing labels and colors, naming pictures of common objects, getting dressed and undressed, and walking and running easily.
Developmental milestones are general guidelines. Children grow at different rates. There is a range in what is considered normal development. But looking at milestones can help identify potential problems early.
The American Academy of Pediatrics (AAP) recommends developmental and behavioral screenings for all children during regular well-child checkups at the following ages:
9 months
18 months
30 months
The AAP also recommends that all children should be screened for autism spectrum disorder during regular checkups at 18 and 24 months.
Also, talk to your provider about a screening if you think there is a problem with your child's development. As a parent, you will probably be the first to notice any problems with the way your child interacts, learns, speaks, or moves.
Screenings may be done by your child's provider and/or by you with guidance from your child's provider.
There are many different types of developmental and behavioral screening tests. Each asks questions about a child's development. You may be asked about your child's social interactions, language skills, and/or gross and fine motor skills. Motor skills are the ability to move muscles. Gross motor skills involve moving large muscles for movements such as walking and jumping. Fine motor skills are the ability to move small muscles with precision, such as picking up a toy or using a fork.
Common tests include:
Ages and Stages Questionnaire. This test is designed for children between the ages of 1 month and 5 1/2 years. It contains a series of questions with answer choices of "yes," "sometimes," and "not yet."
Parents' Evaluation of Developmental Status (PEDS). This test is designed for children from birth to age 8. It is a brief test that can be completed in about five minutes.
Child Development Inventories (CDI). These are three different tests. They are geared to age groups from infancy to preschool. Each contains 60 yes or no questions.
Modified Checklist for Autism in Toddlers (M-CHAT). This test is for toddlers between the ages of 16 and 30 months. It includes a series of yes or no questions.
There are no special preparations needed for this screening.
There is no risk in taking a questionnaire.
If the results show that your child is not developing at the same rate as other children of the same age, it doesn't necessarily mean there is a problem. But your child may be referred to specialist for further testing and treatment. If you have questions about the results, talk to your child's provider.
If screening tests show a problem with your child's development, your child's provider may recommend at-home developmental monitoring. Developmental monitoring is a way to look at how your child grows and changes over time. Parents and other caregivers use brief checklists to track the child's development.
Additional Materials (12)
Boy with visible Brain highlighting Dopamine Pathway
Boy with visible brain highlighting Norepinephrine Pathway
Boy with visible Brain highlighting Serotonin Pathway
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1) Boy with visible Brain highlighting 1) Dopamine Pathway 2) Norepinephrine Pathway 3) Serotonin Pathway
1) Boy with visible Brain highlighting Dopamine Pathway
2) Boy with visible brain highlighting Norepinephrine Pathway
3) Boy with visible Brain highlighting Serotonin Pathway
A toddler boy is shown in profile with some visible brain anatomy. The pathway for the neurotransmitter norepinephrine, shown in green, overlays the outline of the brain. The image supports content about individual temperament and personality differences, including the balance of brain chemicals, that can affect each person's capacity for positive and negative emotions.
Interactive by TheVisualMD
Brain Growth
Brain Growth
Brain Growth
Brain Growth
Brain Growth
Brain Growth
Brain Growth
Brain Growth
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Brain Growth - Development of the Cerebellum
Brain Growth from Birth to 14 Months : Explore the brain at four different ages at birth and at 3, 7, and 14 months of age. Views from multiple angles reveal the intricate structure of many of the internal components of the baby brain. Brain growth in an infant"s first year of life is nothing short of remarkable: the brain uses 60% of the total energy consumed by the infant and nearly triples in size.
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Gray Matter
Brainstem
Cerebellum
Hippocampus
White Matter
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Brain Growth from Birth to 14 Months
Explore the brain at four different ages at birth and at 3, 7, and 14 months of age. Views from multiple angles reveal the intricate structure of many of the internal components of the baby brain. Brain growth in an infant`s first year of life is nothing short of remarkable: the brain uses 60% of the total energy consumed by the infant and nearly triples in size.
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Infant Brain at 3 Weeks of Age cross section
Infant Brain at 3 Months of Age cross section
Infant Brain at 7 Months of Age cross section
Infant Brain at 14 Months of Age cross section
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Infant Brain Development
1) Infant Brain at 3 Weeks of Age cross section
2) Infant Brain at 3 Months of Age cross section
3) Infant Brain at 7 Months of Age cross section
4) Infant Brain at 14 Months of Age cross section
Brain growth in the first year of life is very rapid. The brain uses 60% of the total energy consumed by the infant and nearly triples in size from the time of birth. Brain maturation in the infant shows trends of increasing myelination (formation of the myelin sheath around a nerve fiber) from occipital to frontal lobes, and from central to subcortical white matter (medial to lateral) as the subject ages. The child's brain has basically finished growing by age 2, although cognitive development clearly continues beyond that time.
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Right Side
Back Side
Left Side
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Brain angiography with contrast
Cerebral angiography is a procedure that uses a special dye (contrast material) and x-rays to see how blood flows through the brain. Doctors may order this test if symptoms or signs of vascular malformation (abnormal blood vessels), aneurysm (blood-filled dilation of a blood vessel), narrowing of the arteries in the brain, and vasculitis (inflammation of blood vessels) are present. Sometimes, it is also used to confirm a brain tumor, evaluate the arteries of the head and neck before surgery, and find a clot that may have caused a stroke.
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Touch
Sound
Sight
Motor Skills
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Brodmann Areas of 14 Month Old Brain
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Gaze Response in Infant Brain
Gaze Response in Infant Brain
Gaze Response in Infant Brain
Gaze Response in Infant Brain
Gaze Response in Infant Brain
Gaze Response in Infant Brain
Gaze Response in Infant Brain
Gaze Response in Infant Brain
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Gaze Response in Infant Brain
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DHA and ARA Concentrations in the Brain
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DHA and ARA Concentrations in the Brain
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Nerve Growth with DHA Supplement Nutrition / Nerve Growth without DHA Supplement Nutrition
DHA and Neurogenesis
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Interactive by TheVisualMD
Normal
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Prefrontal cortex
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1) Boy with visible Brain highlighting 1) Dopamine Pathway 2) Norepinephrine Pathway 3) Serotonin Pathway
TheVisualMD
Brain Growth - Development of the Cerebellum
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Brain Growth from Birth to 14 Months
TheVisualMD
Infant Brain Development
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Brain angiography with contrast
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Brodmann Areas of 14 Month Old Brain
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Gaze Response in Infant Brain
TheVisualMD
DHA and ARA Concentrations in the Brain
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Stress Can Affect Brain Cells
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Cerebral circulation
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DHA and Neurogenesis
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Prefrontal cortex
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Autism Spectrum Disorder (ASD) Screening
Autism Spectrum Disorder (ASD) Screening
Also called: ASD Screening, Autism Screening
Autism spectrum disorder (ASD) screening looks for signs of ASD in children age 2 and under. ASD is a developmental disability that affects behavior, communication, and social skills. Screening helps find out which children need more testing to see if they have ASD.
Autism Spectrum Disorder (ASD) Screening
Also called: ASD Screening, Autism Screening
Autism spectrum disorder (ASD) screening looks for signs of ASD in children age 2 and under. ASD is a developmental disability that affects behavior, communication, and social skills. Screening helps find out which children need more testing to see if they have ASD.
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Use the slider below to see how your results affect your
health.
Your result is Negative.
There is no special test for ASD. Your child's doctor may use a variety of formal and informal autism screening tools, ranging from simple observations to formal assessments.
Related conditions
Autism spectrum disorder (ASD) is a developmental disability caused by differences in a person's brain. ASD affects how people interact with others, communicate, learn, and behave. It can be diagnosed at any age, but symptoms usually show up in the first two years of life and can be life-long.
ASD is called a "spectrum disorder" because there is a wide range of symptoms and strengths in people with ASD. For example, some people with ASD may not talk at all, while others have strong language skills. The learning, thinking, and problem-solving abilities of people with ASD may range from severely challenged to gifted.
ASD screening is mainly used for young children. It helps find out whether a child has any early signs that could be ASD. But screening cannot diagnose ASD. If a screening shows that a child may have the disorder, more testing will be needed to find out for sure.
ASD screening in early childhood is important because early treatment for ASD can help reduce autism symptoms and improve quality of life. For this reason, health care providers routinely screen children for ASD before age two. Older children and adults may also be screened if they have symptoms of ASD but have never been diagnosed with the disorder.
Providers used to group ASD into different types of autism based on a person's symptoms. These were called Asperger syndrome, autistic disorder, and pervasive developmental disorder not otherwise specified (PDD-NOS). There terms are no longer used to diagnose ASD.
Other names: ASD screening
Autism spectrum disorder screening is most often used to check for signs of autism spectrum disorder (ASD) in children age 2 and under. It helps find out which children need more testing to see if they have ASD.
ASD can be hard to diagnose, and screening may not find milder cases in early childhood. So, ASD screening may also be used in older children and adults who have certain challenges with social life and/or behavior that could be signs of ASD.
The American Academy of Pediatrics (AAP) recommends ASD screening for all children at their 18-month and 24-month well-child checkups.
More ASD screening may be needed if your child has a higher risk for ASD. The risk for ASD is higher for children who:
Have a sibling or other family member who has ASD
Have older parents
Have certain genetic disorders or chromosomal conditions, such as Down syndrome, Fragile X, Rett syndrome, or tuberous sclerosis
Had problems during childbirth and/or were born with a low birth weight
Research studies have found no link between vaccines and ASD.
Your child may need ASD screening at any age if you, a teacher, or other caregiver notices possible autism symptoms. Some of the more common ASD symptoms in children and teens include:
Problems with communication and social behavior, such as:
Making little or no eye contact with others
Not responding when people smile or talk to them
Rarely sharing their interests with others (for example, rarely showing you their favorite toy)
Trouble having conversations
Talking a lot about a favorite subject without noticing others aren't interested
Having an unusual tone of voice that's robot-like or sing-song
Having trouble making friends
Not understanding humor or sarcasm
Having unusual behaviors and/or or narrow interests, called "restrictive/repetitive behaviors." For example:
Repeating words or phrases (called echolalia), or hand flapping and/or body rocking
Having a lasting, intense interest in specific topics, such as numbers, details, or facts
Showing unusual attachment to toys, objects
Becoming upset by slight changes in a routine and having difficulty changing from one activity to another
Being more sensitive or less sensitive than other people to sensory input, such as light, sound, the feel of clothing, or temperature
If you're concerned about your child or teen, talk with your child's provider even if your child had a normal ASD screening in the past.
Adults may need ASD screening if they have problems that could be signs of autism, but they were never diagnosed with ASD. Usually, their symptoms are mild, which is why they were not diagnosed earlier. Their challenges may include:
Problems communicating and interacting with others, such as having trouble understanding other people's emotions
Restricted interests and/or repetitive behaviors
Trouble understanding what behavior is expected in school, work, or other areas of life
Adults with ASD may also have difficulty keeping a schedule and setting long-term goals. They often have other conditions such as anxiety, depression, or attention deficit hyperactivity disorder (ADHD).
For children: Screening for ASD is usually done by your child's pediatrician (a doctor who specializes in treating children) or nurse. Screening may also be done in school by trained professionals. The screening may have one or more parts, including:
Questionnaires. You'll usually complete one or more questionnaires. The questions ask about your child's development and behavior, including speech, movement, thinking, and emotions. ASD often runs in families, so you may also be asked about your family health history.
Observation. The provider will watch how your child plays and interacts with you and/or others. For example, the provider will check if your child responds to your laugh or looks at a person who tries to get their attention. Not responding may be a sign of ASD.
Interactive screening tests. These tests are play activities, such as playing make-believe with dolls or other toys. These tests are designed to check your child's communication skills, social behavior, and other abilities.
For adults, screening tools for ASD are still being developed and tested. Your primary care provider may refer you to a specialist, such a psychologist or psychiatrist. The specialist may:
Talk with you about the challenges you face in your day-to-day life
Ask you to complete a questionnaire about your symptoms
Ask to talk with family members who remember what you were like as a young child
Do screening tests for depression, ADHD, and/or anxiety, which are common in people who have ASD
There are no special preparations needed for this screening.
There is no risk to having autism spectrum disorder screening.
The results of an ASD screening may be given as a score. The score may be described as low, medium, or high risk for ASD. If screening results do not find signs of ASD, but you have concerns, discuss them with your provider.
If the screening shows signs of ASD, it may mean that more testing is needed to confirm whether they are caused by ASD.
Children who show signs of ASD often need to see a specialist for more testing. Several types of specialists may be trained to diagnose ASD, including:
Developmental pediatricians, doctors who have training in child development and treating children with special needs
Child neurologists, doctors who specialize in diagnosing and treating conditions involving the brain, spine, and nerves
Child psychologists or psychiatrists, providers who diagnose and treat children who have mental health, behavioral and/or developmental conditions. Psychologists usually have doctoral degrees (PhDs), and psychiatrists are medical doctors (MDs).
There is no one test that can diagnose ASD. So, a specialist will use a combination of methods, including:
Detailed questionnaires and/or interviews with parents, teachers, or caregivers
Watching the child's behavior
Tests to evaluate the child's thinking, learning, and language abilities
Exams to check for other conditions that can cause behavior and/or communication problems. These exams may check:
The nervous system
Hearing
Vision
Genetic testing to look for inherited disorders that can cause ASD. If ASD runs in your family, these tests may be done to help make a diagnosis. Otherwise, they may be done after ASD is diagnosed to help guide treatment.
If your child is diagnosed with ASD, get treatment as soon as possible. ASD treatment involves a variety of services and support depending on your child's needs.
Adults who show signs of ASD may see a psychologist, psychiatrist, neuropsychologist, or other specialist with experience diagnosing ASD in adults. But it can be difficult to find a specialist with this experience. That's because adult testing to diagnose ASD is fairly new. If you would like to find out if you have ASD, ask your primary care provider to help you find a specialist. You might also try contacting an organization in your community that supports people with ASD.
In early childhood, pediatricians do routine developmental and behavioral screening tests designed to catch other types of developmental problems. These tests may miss ASD, so make sure your child's provider does ASD screening, too.
Autism Screening & Assessments | Autism Research Institute [accessed on May 26, 2021]
ASD Specific Screening Tools [accessed on May 26, 2021]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (50)
Autism Spectrum Disorder
Document by NIMH
Children's Health - Why the Environment Matters
NIEHS is committed to understanding how the environment affects a child’s health and development. Researchers across the country are discovering that certain chemicals, pollutants, foods, and activities can be more harmful to a fetus and children than to adults.
Last Updated: 10/2015
Document by National Institute of Environmental Health Sciences
What is Autism Spectrum Disorder? Fact Sheet
Repetitively stacking or lining up objects is associated with autism.
Image by Andwhatsnext
Asperger Syndrome
Asperger syndrome (AS) is an autism
spectrum disorder (ASD), one of a
distinct group of complex neurodevelopment
disorders characterized by social impairment,
communication difficulties, and restrictive,
repetitive, and stereotyped patterns of
behavior.
Document by National Institute of Neurological Disorders and Stroke (NINDS)
Asperger Autistic Child
Asperger Autistic Child
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Sensitive content
This media may include sensitive content
Autism awareness
Three-year-old Hunter, son of Tricia and Staff Sgt. Justin Hoffman, 15th Airlift Squadron loadmaster, 437th Airlift Wing, heads to the basketball courts at a Joint Base Charleston –Air Base Park with his younger brother Cage not too far behind, April 14, 2012. Hunter was diagnosed with moderate to severe classical autism and receives Applied Behavior Analysis therapy to help counteract the symptoms of the disease. He enjoys playing sports and especially hockey. (U.S. Air Force photo by Airman 1st Class Dennis Sloan/Released)
Image by U.S. Air Force photo by Airman 1st Class Dennis Sloan/Released
Rett Syndrome
The locus in red locates the gene responsible for the lower end of FIG.
Image by Original uploader was Mirmillon at fr.wikipedia
Information For Parents: Measles and the Vaccine (Shot) to Prevent It
The best way to protect against measles is to
get the measles-mumps-rubella shot (called
the MMR shot). Doctors recommend that all
children get the MMR shot.
Document by Centers for Disease Control and Prevention (CDC)
Sotos Syndrome
3 1/2 year old male
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Autism
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autism poster small
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Milestone Checklists
How your child plays, learns, speaks, acts, and moves offers important clues about your child’s development. Developmental milestones are things most children can do by a certain age. Check the milestones your child has reached every few months. Take this with you and talk with your child’s doctor at every visit about the milestones your child has reached and what to expect next.
Document by Centers for Disease Control and Prevention
FMR1 Gene: Living with Fragile X Syndrome
The FMR1 gene makes a protein needed for your brain to grow properly. A defect in the gene makes your body produce too little of the protein, or none at all. The majority of males with fragile X syndrome have a significant intellectual disability. Affects of the disease range from subtle learning disabilities to severe mental retardation and autism. Behavioral characteristics include attention deficit disorders, speech disturbances, hand biting, hand flapping, autistic behaviors, poor eye contact, and aversion to touch and noise. While some females with fragile X syndrome will exhibit these characteristics, fewer females are affected and their degree of impact is usually diminished.
Image by TheVisualMD
Colorado Autism Poster and Early Intervention
Colorado Autism Poster and Early Intervention
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How Much Do You REALLY Know About Autism?
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Autism and Joint Attention | Fun Minute Tip 3
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Autism Myths | Child Psychology
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Autism Risk Factors | Child Psychology
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Autism: New Mutations, Genes, and Pathways
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10:04
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58:23
From Early Detection to Early Intervention: Bridging the Gap in Autism Services
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Down Syndrome Tests
Down Syndrome Tests
Also called: Trisomy 21 Testing
Down syndrome tests are used to screen for or to diagnose Down syndrome, which is a type of chromosomal disorder. Down syndrome screening tests have little or no risk to you or your baby, but they can't diagnose or rule out whether your baby has Down syndrome.
Down Syndrome Tests
Also called: Trisomy 21 Testing
Down syndrome tests are used to screen for or to diagnose Down syndrome, which is a type of chromosomal disorder. Down syndrome screening tests have little or no risk to you or your baby, but they can't diagnose or rule out whether your baby has Down syndrome.
Down syndrome is a disorder that causes intellectual disabilities, distinctive physical features, and various health problems. These may include heart defects, hearing loss, and thyroid disease. Down syndrome is a type of chromosomal disorder.
Chromosomes are the parts of your cells that contain your genes. Genes are parts of DNA passed down from your mother and father. They carry information that determines your unique traits, such as height and eye color.
People normally have 46 chromosomes, divided into 23 pairs, in each cell.
One of each pair of chromosomes comes from your mother, and the other pair comes from your father.
In Down syndrome, there is an extra copy of chromosome 21.
The extra chromosome changes the way the body and brain develop.
Down syndrome, also called trisomy 21, is the most common birth defect in the United States.
In two rare forms of Down syndrome, called mosaic trisomy 21 and translocation trisomy 21, the extra chromosome doesn't show up in every cell. People with these disorders usually have fewer of the characteristics and health problems associated with the common form of Down syndrome.
Down syndrome screening tests show whether your unborn baby is more likely to have Down syndrome. Other types of tests confirm or rule out the diagnosis.
Down syndrome tests are used to screen for or diagnose Down syndrome. Down syndrome screening tests have little or no risk to you or your baby, but they can't tell you for sure whether your baby has Down syndrome.
Diagnostic tests during pregnancy can confirm or rule out a diagnosis, but the tests have a small risk of causing a miscarriage.
Many health care providers recommend Down syndrome screening and/or diagnostic tests for pregnant women who are 35 years of age or older. A mother's age is the primary risk factor for having a baby with Down syndrome. The risk increases as a woman gets older. But you may also be at higher risk if you've already had a baby with Down syndrome and/or have a family history of the disorder.
In addition, you may want to get tested to help you prepare if the results show your baby may have Down syndrome. Knowing in advance can give you time to plan for health care and support services for your child and family.
But testing isn't for everyone. Before you decide to get tested, think about how you'd feel and what you might do after learning the results. You should discuss your questions and concerns with your partner and your health care provider.
If you didn't get tested during pregnancy or want to confirm the results of other tests, you may want to have your baby tested if he or she has symptoms of Down syndrome. These include:
Flattened face and nose
Almond-shaped eyes that slant upward
Small ears and mouth
Tiny white spots on the eye
Poor muscle tone
Developmental delays
There are two basic types of Down syndrome tests: screening and diagnostic tests.
Down syndrome screening includes the following tests done during pregnancy:
First trimester screening includes a blood test that checks the levels of certain proteins in the mother's blood. If levels are not normal, it means there is a higher chance of the baby having Down syndrome. The screening also includes an ultrasound, an imaging test that looks at the unborn baby for signs of Down syndrome. The test is done between the 10th and 14th week of pregnancy.
Second trimester screening. These are blood tests that also look for certain substances in the mother's blood that may be a sign of Down syndrome. A triple screen test looks for three different substances. It is done between the 16th and 18th week of pregnancy. A quadruple screen test looks for four different substances and is done between the 15th and 20th week of pregnancy. Your provider may order one or both of these tests.
If your Down syndrome screening shows a higher chance of Down syndrome, you may want to take a diagnostic test to confirm or rule out a diagnosis.
Down syndrome diagnostic tests done during pregnancy include:
Amniocentesis, which takes a sample of amniotic fluid, the fluid that surrounds your unborn baby. It is usually done between the 15th and 20th week of pregnancy.
Chorionic villus sampling (CVS), which takes a sample from the placenta, the organ that nourishes your unborn baby in your uterus. It's usually done between the 10th and 13th week of pregnancy.
Cordocentesis (percutaneous umbilical blood sampling), which takes a blood sample from the umbilical cord. PUBS gives the most accurate diagnosis of Down syndrome during pregnancy, but it can't be done until late in pregnancy, between the 18th and 22nd week.
Down syndrome diagnosis after birth:
Your baby may get a blood test that looks at his or her chromosomes. This test will tell you for sure whether your baby has Down syndrome.
During a blood test, a health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes.
For the first trimester ultrasound, a health care provider will move an ultrasound device over your abdomen. The device uses sound waves to look at your unborn baby. Your provider will check for thickness at the back of your baby's neck, which is a sign of Down syndrome.
For amniocentesis:
You'll lie on your back on an exam table.
Your provider will move an ultrasound device over your abdomen. Ultrasound uses sound waves to check the position of your uterus, placenta, and baby.
Your provider will insert a thin needle into your abdomen and withdraw a small amount of amniotic fluid.
For chorionic villus sampling (CVS):
You'll lie on your back on an exam table.
Your provider will move an ultrasound device over your abdomen to check the position of your uterus, placenta, and baby.
Your provider will collect cells from the placenta in one of two ways: either through your cervix with a thin tube called a catheter, or with a thin needle through your abdomen.
For percutaneous umbilical blood sampling (PUBS):
You'll lie on your back on an exam table.
Your provider will move an ultrasound device over your abdomen to check the position of your uterus, placenta, baby, and umbilical cord.
Your provider will insert a thin needle into the umbilical cord and withdraw a small blood sample.
There are no special preparations needed for Down syndrome testing. But you should talk to your health care provider about the risks and benefits of testing.
There is very little risk to having a blood test or ultrasound. After a blood test, you may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
Amniocentesis, CVS, and PUBS tests are usually very safe procedures, but they do have a slight risk of causing a miscarriage.
Down syndrome screening results can only show if you have a higher risk of having a baby with Down syndrome, but they can't tell you for sure if your baby has Down syndrome You may have results that are not normal, but still deliver a healthy baby with no chromosomal defects or disorders.
If your Down syndrome screening results were not normal, you may choose to have one or more diagnostic tests.
It can help to speak to a genetic counselor before testing and/or after you get your results. A genetic counselor is a specially trained professional in genetics and genetic testing. He or she can help you understand what your results mean.
Raising a child with Down syndrome can be challenging, but also rewarding. Getting help and treatment from specialists early in life can help your child reach his or her potential. Many children with Down syndrome grow up to lead healthy and happy lives.
Talk to your health care provider and genetic counselor about specialized care, resources, and support groups for people with Down syndrome and their families.
Down Syndrome Tests: MedlinePlus Lab Test Information [accessed on Nov 05, 2018]
National Down Syndrome Society. Understanding a Diagnosis of Down Syndrome. [accessed on Nov 05, 2018]
Additional Materials (50)
Karyotype of 21 trisomy (Down syndrome)
Karyotype of 21 trisomy (Down syndrome)
Image by U.S. Department of Energy Human Genome Program
What conditions or disorders are commonly associated with Down syndrome?
A Trisomy 21, Down Syndrome Baby, simply enjoying life!
Image by Himileanmedia
Down Syndrome: Other FAQs
A cropped photo of the eyes of a baby with Down Syndrome. Brushfield spots are visible between the inner and outer circle of the iris.
Image by Szymon Tomczak
Each person with Down syndrome has different talents and the ability to thrive.
Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.
Image by CDC
PAPP-A: PAPP-A Screening Tests
The PAPP-A screen is administered as a first-trimester screen integrated with an hCG test and nuchal translucency (NT) ultrasound. The test screens for chromosomal abnormalities such as Down syndrome and trisomy 18. The image featured here shows an ultrasound image of a fetus suspected to have down syndrome. The areas of concern are highlighted in yellow.
Image by TheVisualMD
Trisomy (Down syndrome)
A common form of aneuploidy (gain or loss of chromosomes from the normal 46) is trisomy, or the presence of an extra chromosome in cells. "Tri-" is Greek for "three"; people with trisomy have three copies of a particular chromosome in cells instead of the normal two copies. Down syndrome is an example of a condition caused by trisomy. People with Down syndrome typically have three copies of chromosome 21 in each cell, for a total of 47 chromosomes per cell.
Image by U.S. National Library of Medicine
Ultrasound image of a fetus suspected to have Down syndrome. The areas of concern are highlighted in yellow.
Image by TheVisualMD
What is Down syndrome?
Down syndrome : A drawing of the facial features of Down syndrome
Image by Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities
Down Syndrome (CDC)
Feet of a 10 year old boy with Down Syndrome, with the typical large space between the large toe and second toe.
Image by Loranchet
Newborn with Down Syndrome
This photograph depicts a newborn with the genetic disorder Down Syndrome, due to the presence of an extra 21st chromosome.
The estimated incidence of Down Syndrome is between 1:1,000 to 1:1,100 live births. Each year approximately 3,000 to 5,000 children are born with this chromosomal disorder.
Image by CDC/ Dr. Godfrey P. Oakley
Megacystis
Megacystis in fetus : Ultrasound revealing megacystis in a fetus with Down syndrome.
Image by X.Compagnion
A Trisomy 21, Down Syndrome Baby, simply enjoying life!
A Trisomy 21, Down Syndrome Baby, simply enjoying life!
Image by Himileanmedia
Brushfield eyes
Brushfield eyes. Brushfield spots are visible between the inner and outer circle of the iris.
Image by Erin Ryan
Genes and Genetic Defects
Genetic testing isn't new. In the 1960s, doctors were able to test newborn babies for certain rare single-gene disorders, such as phenylketonuria (PKU), a rare metabolic disease that causes mental retardation. (PKU can be prevented with a special diet if it's detected early, which was why it was critical to test newborns.)
Image by TheVisualMD
Intellectual disability
Children with intellectual disability or other developmental conditions can compete in theSpecial Olympics.
Image by A1C Justin Veazie
Amniocentesis
Image by BruceBlaus
This browser does not support the video element.
Prenatal Diagnostic Testing
If a pregnant woman has an abnormal genetic screening test result, a doctor may suggest a prenatal diagnostic test be done to determine with more certainly whether or not a fetus has a particular disorder. There are two main diagnostic testing procedures, chorionic villus sampling (CVS) and amniocentesis. Both of these tests involve collecting a sample from inside the womb, which is then examined to detect diseases such as Down Syndrome, Edwards Syndrome, neural tube defects, cystic fibrosis, fragile-x, and spinal muscular atrophy. Prenatal diagnostic tests provide valuable information on the health of the fetus and can help alleviate the stress of expectant parents.
Video by TheVisualMD
What is Down Syndrome? | Baby Care Basic | Parents
Video by Parents/YouTube
Down Syndrome Answers: How does Down syndrome affect intellectual development?
Video by Canadian Down Syndrome/YouTube
Down Syndrome Answers: Are babies with Down syndrome fussy?
Video by Canadian Down Syndrome/YouTube
Down Syndrome Answers: Is Down syndrome curable?
Video by Canadian Down Syndrome/YouTube
Down Syndrome Answers: Who gets Down syndrome?
Video by Canadian Down Syndrome/YouTube
Down Syndrome Answers: Is Down syndrome inherited?
Video by Canadian Down Syndrome/YouTube
Down Syndrome Answers: Which trisomy is Down syndrome?
Video by Canadian Down Syndrome/YouTube
There Are Way too Many False Positives in Prenatal Screenings
Video by Healthcare Triage/YouTube
Down Syndrome Answers: Is there treatment for Down syndrome?
Video by Canadian Down Syndrome/YouTube
Down Syndrome Answers: How long does a person with Down syndrome live?
Video by Canadian Down Syndrome/YouTube
Down Syndrome Answers: What does Down syndrome affect?
Video by Canadian Down Syndrome/YouTube
Did Scientists Cure Down Syndrome?
Video by Seeker/YouTube
Down Syndrome Answers: What is trisomy 21?
Video by Canadian Down Syndrome/YouTube
What Causes Trisomy 21 (Down syndrome)?
Video by TwentyWonder/YouTube
Down Syndrome – Genetics | Lecturio
Video by Lecturio Medical/YouTube
The Truth About Down Syndrome
Video by Children's Hospital Colorado/YouTube
Ten things people with Down syndrome would like you to know
Also called: Amnio, Amniotic Fluid Test, AFT, Amniotic Fluid Analysis
Amniocentesis is a test done during pregnancy, usually between weeks 15 and 20. It uses a sample of amniotic fluid to diagnose certain genetic disorders, birth defects, and other health problems in an unborn baby.
Amniocentesis
Also called: Amnio, Amniotic Fluid Test, AFT, Amniotic Fluid Analysis
Amniocentesis is a test done during pregnancy, usually between weeks 15 and 20. It uses a sample of amniotic fluid to diagnose certain genetic disorders, birth defects, and other health problems in an unborn baby.
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Use the slider below to see how your results affect your
health.
Your result is Normal.
A normal or negative result means that there were 46 chromosomes in the sample without any unusual changes in their structure. Normal karyotypes for females contain two X chromosomes and are denoted 46,XX; males have both an X and a Y chromosome denoted 46,XY.
Related conditions
Amniocentesis is a test done during pregnancy. A sample of amniotic fluid is taken from your abdomen (belly). It is used to diagnose certain genetic disorders, birth defects, and other conditions in your unborn baby. The test is usually done between weeks 15 and 20 of pregnancy.
Your baby grows in an amniotic sac inside your uterus. The sac is filled with amniotic fluid, a clear or pale yellow liquid. The fluid that surrounds and protects your baby throughout pregnancy. It also helps with your baby's development and helps keep your baby at the right temperature. The fluid contains cells that can provide important information about your baby's health.
Amniocentesis is a diagnostic test. That means it will tell you whether your baby has a specific health problem, and the results are almost always accurate. Diagnostic tests are different from prenatal screening tests for genetic disorders. Prenatal screening tests have no risks for you or your baby, but they don't diagnose problems. They can only show if your baby might have a health problem. If a screening test shows your baby could have a problem, your health care provider may recommend amniocentesis or another diagnostic test to find out for sure.
Other names: amniotic fluid analysis
Amniocentesis is used to diagnose certain health problems in an unborn baby. It is commonly used to find:
Genetic and chromosomal disorders, including:
Down syndrome, a disorder that causes delays in physical and mental development and other health problems.
Cystic fibrosis, a disease of the mucus and sweat glands that causes thick sticky mucus, which can lead to problems with breathing and digestion.
Sickle cell disease, a group of red blood cell disorders that can cause anemia and other health problems.
Tay-Sachs disease, a disease that destroys nerve cells, causes mental and physical problems, and often death in early childhood (uncommon).
Neural tube defects, severe birth defects of the baby's brain and/or spine, such as spina bifida and anencephaly.
The test may also be used to:
Check your baby's lung development if you have a risk of giving birth too soon (premature birth). In this case, amniocentesis is done later in your pregnancy.
Diagnose an infection or certain other illnesses in the baby.
Having amniocentesis is your choice. You may want this test if you have a higher risk of having a baby with a health problem. You may have a higher risk if:
You are age 35 or older; the risk of having a baby with a genetic disorder increases with age
You had a prenatal screening test that showed your baby might have a problem
You or your partner have a family history of a genetic disorder or neural tube defect
You or your partner had genetic testing that showed you carry a genetic disorder
You or your partner have a child with a genetic disorder or birth defect
Amniocentesis isn't right for everyone. Before you decide to get tested, think about how you might feel and what you might do after learning the results.
The test is usually done between 15 and 20 weeks of pregnancy. It is sometimes done later in pregnancy to check the baby's lung development or diagnose certain infections or illnesses, such as anemia in the unborn baby caused by Rh incompatibility.
During the procedure:
You'll lie on your back on an exam table.
Your provider will apply a gel to your belly.
Your provider will move an ultrasound wand-like device, called a transducer, on your belly. Ultrasound uses sound waves to show the position of your baby and placenta so your provider can see where to take a sample of amniotic fluid.
Your provider will clean your belly.
Your provider will insert a thin needle into your belly, withdraw a small amount of amniotic fluid, and then remove the needle.
When the sample is removed, your provider will check your baby's heartbeat with the ultrasound.
The sample is sent to a lab for testing. Results may take from a few days to a few weeks.
The procedure usually takes about 15 minutes. Afterward, you may be told not to exercise or have sex for a day or two.
If you are early in your pregnancy, you may be asked not to urinate (pee) before the test to make sure that you have a full bladder. This helps move the uterus into a better position for the test. In later pregnancy, you need to have an empty bladder for the test.
You may feel mild stinging, pressure, and/or cramping during the test. Afterward, you may have mild discomfort or vaginal bleeding, or a small amount of amniotic fluid may leak from your vagina.
The risk of serious complications is extremely low. Your provider will let you know if there are any symptoms that you should tell them about. These may include ongoing vaginal bleeding, amniotic fluid leakage, severe cramping, or a fever.
Amniocentesis does have a very slight risk (less than 1 percent) of causing a miscarriage.
Amniotic fluid may be tested for many different disorders. Your test results will depend on which tests your provider ordered.
Normal results are reported as "normal" or "negative." This means that it's very unlikely that your baby has the disorder that was tested, but it does not guarantee your baby will not have any health problems.
Results that are not normal are reported as "abnormal" or "positive." This means that your baby very likely has the disorder that was tested.
Your provider will explain your test results. Amniocentesis is very accurate, but in certain cases, your provider may order more tests to learn about your baby's health.
It may help to speak to a genetic counselor before testing and/or after you get your results. A genetic counselor is a specially trained professional in genetics and genetic testing who can help you understand what your results mean.
In some cases, you may want information about your unborn baby sooner than 15 to 20 weeks, when amniocentesis is usually done. In that case, you might consider another diagnostic test called a chorionic villus sampling (CVS). This test takes a small sample of tissue from the placenta.
You can have a CVS test between 10 and 13 weeks of pregnancy, which gives you more time to decide what to do if the results are abnormal. Like amniocentesis, CVS is an accurate diagnostic test that can find certain genetic disorders. But it has a slightly higher risk of miscarriage.
As you make decisions about testing, remember that prenatal genetic diagnostic tests are different from screening tests. Screening tests estimate the chances that your unborn baby may have certain problems. It's possible to have an abnormal screening test when your baby is actually healthy. But if a screening test shows that your baby has a risk for certain problems, you may have amniocentesis or CVS to find out for sure.
Amniocentesis (amniotic fluid test): MedlinePlus Medical Test [accessed on Jan 20, 2024]
Amniocentesis: MedlinePlus Medical Encyclopedia [accessed on Jan 17, 2019]
Diagnosis of Birth Defects | CDC [accessed on Jan 17, 2019]
Amniocentesis. Test in pregnancy, amniocentesis information. | Patient [accessed on Jan 17, 2019]
Amniocentesis - Health Encyclopedia - University of Rochester Medical Center [accessed on Jan 17, 2019]
Amniotic Fluid Analysis [accessed on Jan 17, 2019]
Amniocentesis - InsideRadiology [accessed on Jan 17, 2019]
Amniocentesis - NHS [accessed on Jan 17, 2019]
Amniocentesis - American Pregnancy Association [accessed on Jan 17, 2019]
Amniocentesis Procedure [accessed on Jan 17, 2019]
Amniocentesis | March of Dimes [accessed on Jan 17, 2019]
Additional Materials (10)
Amniocentesis
Amniocentesis
Image by TheVisualMD
Amniocentesis Being Performed on Human Pregnancy
Amniocentesis Being Performed on Human Pregnancy
Image by TheVisualMD
Amniocentesis
Video by Obstetrics & Gynecology Associates/YouTube
Amniocentesis: Pre-Baby Care (Pregnancy Health Guru)
Video by Healthguru/YouTube
Amniocentesis | Parents
Video by Parents/YouTube
This browser does not support the video element.
Prenatal Diagnostic Testing
If a pregnant woman has an abnormal genetic screening test result, a doctor may suggest a prenatal diagnostic test be done to determine with more certainly whether or not a fetus has a particular disorder. There are two main diagnostic testing procedures, chorionic villus sampling (CVS) and amniocentesis. Both of these tests involve collecting a sample from inside the womb, which is then examined to detect diseases such as Down Syndrome, Edwards Syndrome, neural tube defects, cystic fibrosis, fragile-x, and spinal muscular atrophy. Prenatal diagnostic tests provide valuable information on the health of the fetus and can help alleviate the stress of expectant parents.
Video by TheVisualMD
Genetic Testing During Pregnancy
Video by University of California Television (UCTV)/YouTube
Amniocentesis.flv
Video by PortalMedicoModerno/YouTube
Amnio vs. Genetic Blood Testing
Video by Lee Health/YouTube
Amniocentesis
Video by Washington State Department of Health/YouTube
Amniocentesis
TheVisualMD
Amniocentesis Being Performed on Human Pregnancy
TheVisualMD
3:15
Amniocentesis
Obstetrics & Gynecology Associates/YouTube
2:01
Amniocentesis: Pre-Baby Care (Pregnancy Health Guru)
Healthguru/YouTube
4:57
Amniocentesis | Parents
Parents/YouTube
4:34
Prenatal Diagnostic Testing
TheVisualMD
4:38
Genetic Testing During Pregnancy
University of California Television (UCTV)/YouTube
A prenatal cell-free DNA (cfDNA) screening is a blood test for pregnant people. It checks whether the baby is more likely to have certain chromosome disorders. A cfDNA screening can be done as early as the 10th week of pregnancy.
A prenatal cell-free DNA (cfDNA) screening is a blood test for pregnant people. It checks whether the baby is more likely to have certain chromosome disorders. A cfDNA screening can be done as early as the 10th week of pregnancy.
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Use the slider below to see how your results affect your
health.
Your result is Negative.
A negative cell-free fetal DNA test result means that it is very unlikely that the baby has trisomy 13, 18, or 21.
Related conditions
Prenatal cell-free DNA (cfDNA) screening is a blood test for pregnant people. During pregnancy, some of the unborn baby's DNA circulates in the pregnant person's bloodstream. A cfDNA screening checks this DNA to find out if the baby is more likely to have certain conditions caused by an abnormal number of chromosomes, such as Down syndrome.
Chromosomes are tiny "packages" in your cells that contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works.
Normally, you're born with a set of 46 chromosomes in each cell. The chromosomes are grouped into 23 pairs. Each pair has two chromosomes, one coming from each parent.
If one of these pairs has an extra copy of a chromosome, it's called a trisomy. A trisomy causes changes in the way the body and brain develop.
If there is an extra copy of chromosome 21, it's called Down syndrome. This is also known as trisomy 21. Down syndrome is the most common chromosome disorder in the United States.
Other trisomy disorders include Edwards syndrome (trisomy 18), where there is an extra copy of chromosome 18, and Patau syndrome (trisomy 13), where there is an extra copy of chromosome 13. These disorders are rare but more serious than Down syndrome. Most babies with trisomy 18 or trisomy 13 die within the first year of life.
There is very little risk to you and your baby with a cfDNA screening. But a cfDNA screening can't tell you for sure whether your baby has a chromosome disorder. Your health care provider will need to order other tests to confirm or rule out a diagnosis.
A cfDNA screening is most often used to show if your unborn baby has an increased risk for one of the following chromosome disorders:
Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
The screening may also be used to:
Determine a baby's gender (sex). This may be done if an ultrasound shows that a baby's genitals are not clearly male or female. This may be caused by a disorder of the sex chromosomes.
Check Rh blood type. Rh is a protein found in red blood cells. If you have the protein, you are considered Rh positive. If you don't, you are Rh negative. If you are Rh negative and your unborn baby is Rh positive, your body's immune system may attack your baby's blood cells. If you find out you are Rh negative early in pregnancy, you can take medicines to protect your baby from dangerous complications.
A cfDNA screening can be done as early as the 10th week of pregnancy.
Many providers recommend this screening to pregnant people who are at higher risk of having a baby with a chromosome disorder. You may be at higher risk if:
You are age 35 or older. The pregnant person's age is the main risk factor for having a baby with Down syndrome or other trisomy disorders. The risk increases as you get older.
You've had another baby with a chromosome disorder.
Your fetal ultrasound didn't look normal.
Other prenatal test results were not normal.
Many providers recommend screening for all pregnant people. This is because the screening has almost no risk and has a high rate of accuracy.
You and your provider should discuss if a cfDNA screening is right for you.
A health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes.
You may want to speak to a genetic counselor before you get tested. A genetic counselor is a specially trained professional in genetics and genetic testing. He or she can explain the possible results and what they might mean to you and your baby.
There is no risk to your unborn baby and very little risk to you. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
If your results were negative, it's unlikely that your baby has Down syndrome or another trisomy disorder.
If your results were positive, it means there is an increased risk that your baby has one of these disorders. But it can't tell you for sure if your baby is affected. To confirm a diagnosis, you'll need other tests, such as amniocentesis and chorionic villus sampling (CVS):
Amniocentesis. This test takes a sample of the amniotic fluid that surrounds the unborn baby in the uterus. The fluid contains cells from the baby that can be tested. The test is usually done between the weeks 15 and 20 of pregnancy.
Chorionic villus sampling (CVS). A CVS collects tissue from parts of the placenta called the chorionic villi. The placenta is the organ that grows in the uterus to provide nutrients and oxygen to the baby. Cells from the chorionic villi usually have the same chromosomes as the unborn baby. A CVS may be done between weeks 10 and 13 of pregnancy.
These tests are usually very safe procedures, but they do have a slight risk of causing a miscarriage.
If you have questions about your results, talk to your provider and/or a genetic counselor.
cfDNA screenings are not as accurate in people who are pregnant with more than one baby (twins, triplets, or more).
Cell-Free Fetal DNA. Lab Tests Online. [accessed on Nov 08, 2018]
What is noninvasive prenatal testing (NIPT) and what disorders can it screen for? Genetics Home Reference (GHR), U.S. National Library of Medicine [accessed on Nov 08, 2018]
Prenatal cell-free DNA screening - Mayo Clinic [accessed on Nov 08, 2018]
FAQ: Cell-Free DNA Screening | Patient Education | UCSF Medical Center [accessed on Nov 08, 2018]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (23)
Cell free fetal DNA (cffDNA)
Cell free fetal DNA (cffDNA) migrating into the maternal blood stream via the apoptotic trophoblast cells shedding off the placental tissue.
Image by Swils6/Wikimedia
Pinpointing Genes
This illustration explains chromosome staining, inherited markers, and DNA cloning.
Image by National Cancer Institute / Jane Hurd (Illustrator)
DNA Molecule
DNA Molecule
Image by TheVisualMD
Sensitive content
This media may include sensitive content
Liquid biopsy
Tumor cells shed protein and DNA into bloodstream for laboratory analysis and early cancer detection.
Image by Jill George/NIH
Amniocentesis
BruceBlaus
Image by Wikimedia Commons
Human Chorionic Gonadotropin (hCG): hCG Levels Increase Over Time
hCG testing for pregnancy is available to women of child-bearing age. The \"quad\" screen, of which hCG is a component, is especially recommended for women with higher-risk pregnancies as indicated by factors such as maternal age, family history, and disease history. Levels can first be detected by a blood test about 11 days after conception and about 12-14 days after conception by a urine test. In general the hCG levels will double every 72 hours. The level will reach its peak in the first 8-11 weeks of pregnancy and then will decline and level off for the remainder of the pregnancy.
Image by TheVisualMD
Sensitive content
This media may include sensitive content
Chorionic Villus Sampling (CVS)
Chorionic Villus Sampling (CVS) is a prenatal diagnostic test that gathers information about a fetus' health from a sample of chorionic villi cells from the placenta. If a woman is at high risk for a genetic disease, a doctor may recommend CVS to determine whether a baby has certain genetic disorders, such as cystic fibrosis, among other diseases.
Image by TheVisualMD
Prenatal Testing: What to Expect During a First Prenatal Visit
An ultrasound is a simple test during pregnancy that will give your healthcare provider a detailed look at your baby's progress. Learn helpful tips for what to expect and how to stay healthy while pregnant.
Image by TheVisualMD
The Tipsy Test Genebook from BGI
BGI "Genebook", an experimental platform for genetic testing being offered as a perk to the staff. The Tipsy test screens alcohol metabolism genes and gives a score on how well you should be able to metabolise alcohol
Image by Scotted400
Factors affecting penetrance
Factors affecting penetrance
Image by Genomics Education Program
Hipaa Violations by Type
This chart breaks Hipaa Privacy Violations down by the percentage of total violations for each violation type. Based on data available from The U.S Department of Health and Human Services for the period 9/22/2009 to 07/04/2012. Includes the following types: sensitive data disclosed without permision, data compromised by hackers, improper disposal of data, data lost and not accounted for, data physically stolen, and other/unknown. I created this chart in Microsoft Excel 2010 using the information provided on this page of the HHS.gov website.
I altered the descriptions used by HHS to make them more descriptive. For example, I changed 'Theft' to 'Data Stolen Physically' as it specifically refers to data that was stolen by physically carying an item out of the place of business.
Image by Compliance and Safety LLC
Methylation of CpG islands in TSG promoters can suppress gene expression and lead to cancer
Methylation of CpG islands in TSG promoters can suppress gene expression and lead to cancer.
Image by WassermanLab
Preimplantation genetic diagnosis
1♂︎—Sperm is collected from a male.
1♀︎—Eggs are collected via in vitro fertilization from a female.
2—The sperm and eggs are fertilized.
3a—The embryos are allowed to develop; those that thrive are given identifiers.
3b—A genetic test is run on each embryo for a given trait and the results are matched with the embryos.
4—The embryos without the desired trait are identified and discarded.
5—The remaining embryos are allowed to grow to the point that they can be implanted.
6a—The embryos with the desired trait are implanted.
6b—The embryos result in a healthy pregnancy.
6c—Fraternal twins with the desired trait, not expressed in their mother, are born.
Image by Psiĥedelisto, Vincent Le Moign, and Nevit Dilmen (User:Nevit)
Genetic discrimination
genetic discrimination
Image by TheVisualMD
Pinpointing Genes in Cancer
This illustration explains about 1) chromosome staining, 2)inherited markers and 3) DNA cloning.
Image by Jane Hurd (Illustrator) / National Cancer Institute (NCI)
Genetic Changes and Cancer
Genes contain information to make proteins, and proteins control many important functions like cell growth. Genetic mutations can change how proteins function. Some types of genetic mutations change proteins in ways that cause healthy cells to become cancerous.
Image by National Cancer Institute (NCI)
Types of Genetic Mutations
Genes contain information to make proteins, and proteins control many important functions like cell growth. Genetic mutations can change how proteins function. Some types of genetic mutations change proteins in ways that cause healthy cells to become cancerous.
Image by National Cancer Institute (NCI)
Prenatal Cell-Free DNA Screening (cfDNA Screening)
Video by Washington State Department of Health/YouTube
Screening in Pregnancy
Video by Michigan Medicine/YouTube
Stanford Hospital's Dr. Jane Chueh on Prenatal Screening and Diagnosis
Video by Stanford Health Care/YouTube
Cell-free DNA Analysis and Cancer Treatment
Video by NEJMvideo/YouTube
Prenatal Screening Options: cfDNA (cell free DNA)
Video by UNC Center for Maternal and Infant Health/YouTube
Cell-Free DNA Prenatal Screen
Video by Mayo Clinic Laboratories/YouTube
Cell free fetal DNA (cffDNA)
Swils6/Wikimedia
Pinpointing Genes
National Cancer Institute / Jane Hurd (Illustrator)
DNA Molecule
TheVisualMD
Sensitive content
This media may include sensitive content
Liquid biopsy
Jill George/NIH
Amniocentesis
Wikimedia Commons
Human Chorionic Gonadotropin (hCG): hCG Levels Increase Over Time
TheVisualMD
Sensitive content
This media may include sensitive content
Chorionic Villus Sampling (CVS)
TheVisualMD
Prenatal Testing: What to Expect During a First Prenatal Visit
TheVisualMD
The Tipsy Test Genebook from BGI
Scotted400
Factors affecting penetrance
Genomics Education Program
Hipaa Violations by Type
Compliance and Safety LLC
Methylation of CpG islands in TSG promoters can suppress gene expression and lead to cancer
WassermanLab
Preimplantation genetic diagnosis
Psiĥedelisto, Vincent Le Moign, and Nevit Dilmen (User:Nevit)
Genetic discrimination
TheVisualMD
Pinpointing Genes in Cancer
Jane Hurd (Illustrator) / National Cancer Institute (NCI)
Genetic Changes and Cancer
National Cancer Institute (NCI)
Types of Genetic Mutations
National Cancer Institute (NCI)
3:54
Prenatal Cell-Free DNA Screening (cfDNA Screening)
Washington State Department of Health/YouTube
5:34
Screening in Pregnancy
Michigan Medicine/YouTube
1:11:38
Stanford Hospital's Dr. Jane Chueh on Prenatal Screening and Diagnosis
Stanford Health Care/YouTube
3:36
Cell-free DNA Analysis and Cancer Treatment
NEJMvideo/YouTube
4:56
Prenatal Screening Options: cfDNA (cell free DNA)
UNC Center for Maternal and Infant Health/YouTube
4:58
Cell-Free DNA Prenatal Screen
Mayo Clinic Laboratories/YouTube
Chorionic Villus Sampling
Chorionic Villus Sampling
Also called: CVS, Chorionic Villus Biopsy, Placental Biopsy
Chorionic villus sampling (CVS) is a test for pregnant women that checks cells from the placenta. It is used in the first trimester of pregnancy to diagnose certain chromosome and genetic disorders in an unborn baby.
Chorionic Villus Sampling
Also called: CVS, Chorionic Villus Biopsy, Placental Biopsy
Chorionic villus sampling (CVS) is a test for pregnant women that checks cells from the placenta. It is used in the first trimester of pregnancy to diagnose certain chromosome and genetic disorders in an unborn baby.
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Use the slider below to see how your results affect your
health.
Your result is Normal.
A normal result means that no signs of chromosomal or genetic defects were detected in your developing baby.
Related conditions
Chorionic villus sampling (CVS) is test for pregnant women that checks chorionic villi, tiny finger-like growths found in the placenta. The placenta is the organ that nourishes an unborn baby in the uterus. The test looks for abnormalities in the baby's chromosomes. Chromosomes are parts of cells that contain your genes. Genes are parts of DNA passed down from your mother and father. Normally, people have a total of 46 chromosomes.
Chorionic villi contain the same chromosomes as an unborn baby. So, a CVS test can show if a baby has an extra chromosome or a missing or damaged chromosome. These chromosome differences can cause serious health problems.
CVS is a prenatal diagnostic test, which means it can almost always tell for sure whether an unborn baby has a chromosome disorder. This is different than a prenatal screening test, which only shows whether a baby has an increased risk of a serious health problem.
CVS testing is used to diagnose chromosome problems or other genetic diseases in an unborn baby. These include:
Down syndrome, a disorder that causes intellectual disabilities, certain physical features, and various health problems.
Cystic fibrosis, a disease that causes mucus buildup in the lungs and other organs, making it hard to breathe.
Sickle cell disease, a disorder of the red blood cells. It can cause pain, infections, organ damage, and strokes.
Tay-Sachs disease, a disorder that causes fatty proteins to build up in the brain. It affects sight, hearing, and mental development. Most children with Tay-Sachs die by the age of 5.
CVS testing is very accurate and can be done early in pregnancy, between the 10th and 13th week. But it can only diagnose certain genetic diseases. A CVS test does not diagnose or screen for birth defects such as neural tube defects, conditions that cause abnormal development of a developing baby's brain and/or spine. Different tests, including an alpha-fetoprotein (AFP) blood test, are used to screen for or diagnose these and other birth defects.
You may need CVS testing if you are at higher risk for having a baby with a chromosome disorder. Risk factors include:
Age. Women age 35 and older have a higher risk of having a baby with Down syndrome or another genetic disorder.
Family history of a genetic disorder
Having another child with a genetic disorder
You may also need CVS testing if you had abnormal results on a prenatal screening test.
There are two types of CVS tests:
Transabdominal The sample is taken through the abdomen.
Transcervical. The sample is taken through the cervix. The cervix is the lower, narrow end of the uterus that opens into the vagina.
Your provider will use an ultrasound to check your baby's position and guide the procedure (transabdominal or transcervical). Ultrasound is an imaging test that uses sound waves to create pictures.
During a transabdominal CVS, your provider will:
Clean your abdomen with an antiseptic.
Apply a numbing medicine to your abdomen.
Insert a long, thin needle through your abdomen and uterus and into the placenta. You may feel a cramping or stinging sensation as the needle enters the uterus.
Use the needle to withdraw a sample of tissue from the placenta.
Remove the needle.
During a transcervical CVS, your provider will:
Clean your vagina and cervix with an antiseptic
Use an instrument called a speculum to gently spread apart the sides of your vagina.
Insert a thin tube through your vagina and cervix and up to the placenta. You may feel a slight twinge or cramping as this is done.
Use the tube to gently suck in a sample of tissue from the placenta.
Remove the tube.
On the morning of the test, you may be asked to drink extra fluids and not urinate. This will fill your bladder, which may help move the uterus into a better position for the procedure.
CVS is generally considered to be a safe procedure, but it does have some risks. These include:
Miscarriage, which happens in about one in every hundred procedures
Infection
Bleeding
Rh sensitization. This is a condition in which your body makes antibodies (proteins made by the immune system) that attack your baby's red blood cells. If diagnosed during pregnancy, it is easily treatable.
Limb defects in the baby (this is very rare)
CVS test results are usually available within two weeks.
If your results were not normal, it may mean your baby has a chromosome or genetic disorder, such as Down syndrome or cystic fibrosis. Occasionally, CVS test results are unclear, and your provider may recommend amniocentesis. Amniocentesis is another prenatal diagnostic test. It is performed between the 15th and 20th week of pregnancy.
If you have questions about your results, talk to your health care provider.
Some chromosome and genetic disorders require your baby to have extensive medical treatments. Other disorders may not be treatable. If your CVS test results were not normal, you should talk with your health care provider about your options and the decisions you may need to make. It may also help to speak to a genetic counselor both before and after you get your results. A genetic counselor is a specially trained professional in genetics and can help you understand what your results mean.
http://americanpregnancy.org/prenatal-testing/chorionic-villus-sampling/ [accessed on Jan 26, 2019]
https://medlineplus.gov/ency/article/003406.htm [accessed on Sep 18, 2019]
https://medlineplus.gov/lab-tests/down-syndrome-tests/ [accessed on Sep 18, 2019]
https://www.cdc.gov/ncbddd/birthdefects/diagnosis.html [accessed on Sep 18, 2019]
https://www.hopkinsmedicine.org/health/treatment-tests-and-therapies/chorionic-villus-sampling-cvs [accessed on Sep 18, 2019]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (14)
Chorionic Villus Sampling
Video by manny1976/YouTube
Chorionic Villus Sampling (CVS)
Video by Washington State Department of Health/YouTube
Prenatal screening, fetal testing, and other tests during pregnancy
Video by MedLecturesMadeEasy/YouTube
This browser does not support the video element.
Prenatal Diagnostic Testing
If a pregnant woman has an abnormal genetic screening test result, a doctor may suggest a prenatal diagnostic test be done to determine with more certainly whether or not a fetus has a particular disorder. There are two main diagnostic testing procedures, chorionic villus sampling (CVS) and amniocentesis. Both of these tests involve collecting a sample from inside the womb, which is then examined to detect diseases such as Down Syndrome, Edwards Syndrome, neural tube defects, cystic fibrosis, fragile-x, and spinal muscular atrophy. Prenatal diagnostic tests provide valuable information on the health of the fetus and can help alleviate the stress of expectant parents.
Video by TheVisualMD
Diagnostic Testing in Pregnancy
Video by Michigan Medicine/YouTube
Prenatal Testing - What You Need To Know
Video by Rehealthify/YouTube
Amniocentesis: Pre-Baby Care (Pregnancy Health Guru)
Video by Healthguru/YouTube
Chorionic Villus Sampling (CVS) Mnemonic
Video by Medicosis Perfectionalis/YouTube
First Trimester of Pregnancy -- CVS Prenatal Test | Parents
Video by Parents/YouTube
Genetic Testing During Pregnancy
Video by University of California Television (UCTV)/YouTube
Video by UNC Center for Maternal and Infant Health/YouTube
Embryo 26 Day Old (Week 5 for Gestational Age) Suspended in Chorionic Cavity
Computer Generated Image from Micro-MRI, actual size of embryo = 4.0 mm - This image presents a right-sided view of the embryo during its fourth week of embryonic development. The age is calculated from the day of fertilization. At the beginning of the 4th week, the heart begins to beat and the embryonic circulation sets in. At the end of 4 weeks over 30 somites are present . Somites are paired blocks of cells which in the later stages of development give rise to connective tissue, bone, muscle and the spine. The embryo is suspended in the protective chorionic cavity by the body stalk (the amniotic cavity and yolk sac have been removed to demonstrate the C-shaped curvature of the embryo). The red spot in the head region indicates the developing eye.
Image by TheVisualMD
Chorionic villi
Chorionic villus
Image by BruceBlaus
Chorionic villi
Schematic view of the placenta and chorion.
Image by Swils6
4:42
Chorionic Villus Sampling
manny1976/YouTube
4:16
Chorionic Villus Sampling (CVS)
Washington State Department of Health/YouTube
18:42
Prenatal screening, fetal testing, and other tests during pregnancy
MedLecturesMadeEasy/YouTube
4:34
Prenatal Diagnostic Testing
TheVisualMD
2:10
Diagnostic Testing in Pregnancy
Michigan Medicine/YouTube
1:45
Prenatal Testing - What You Need To Know
Rehealthify/YouTube
2:01
Amniocentesis: Pre-Baby Care (Pregnancy Health Guru)
Healthguru/YouTube
2:13
Chorionic Villus Sampling (CVS) Mnemonic
Medicosis Perfectionalis/YouTube
2:44
First Trimester of Pregnancy -- CVS Prenatal Test | Parents
Parents/YouTube
4:38
Genetic Testing During Pregnancy
University of California Television (UCTV)/YouTube
Cordocentesis, also known as percutaneous umbilical blood sampling, is a diagnostic prenatal test in which a sample of the baby's blood is collected from the umbilical cord for testing. It is used primarily to detect and treat blood conditions.
Cordocentesis, also known as percutaneous umbilical blood sampling, is a diagnostic prenatal test in which a sample of the baby's blood is collected from the umbilical cord for testing. It is used primarily to detect and treat blood conditions.
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Use the slider below to see how your results affect your
health.
Your result is Normal.
A normal result means that no chromosomal abnormalities, blood disorders, or infection were detected in your developing baby.
Related conditions
Cordocentesis is a test in which fetal blood from the umbilical cord is withdrawn while the baby is still in the uterus. Cordocentesis is the most accurate prenatal diagnostic method. However, it has a higher rate of miscarriage than chorionic villus sampling (CVS) or amniocentesis, therefore it's generally reserved for cases where other tests yield inconclusive results or can't provide the needed information.
The test looks for chromosomal abnormalities, including Down syndrome; blood disorders, such as anemia; and infection. Cordocentesis can also be used to deliver blood and medication to a baby through the umbilical cord.
Cordocentesis is most often done to test for anemia in the baby.
The test can't be done until late in pregnancy, between the 18th and 22nd week.
Using advanced ultrasound for guidance, a long, thin needle is inserted through your abdomen and uterus and into a vein in the umbilical cord. A small quantity of fetal blood is drawn from the vein and sent to a lab for analysis.
CVS is usually a safe procedure, however there is a 1-2% risk of miscarriage—that is, for every 100 procedures there are 1-2 miscarriages. There is also a risk of infection, drop in the fetal heart rate, rupture of the membranes, and blood loss from the puncture site.
The complication rate is highest in pregnancies with nonimmune hydrops fetalis (NIHF).
A normal result means that no chromosomal abnormalities, blood disorders, or infection were detected in your developing baby. Even though the test results are very accurate, no test is 100% accurate at testing for genetic problems in a pregnancy.
An abnormal result may indicate a chromosomal abnormality, blood disorder, or infection. Talk to your doctor to know what this result means in your baby's specific case.
This test does not check for neural tube defects (birth defects of the brain, spine, or spinal cord) in the fetus.
Before having diagnostic testing, you and your family may want to meet with a genetic counselor to discuss your family history and the risks and benefits of testing in your specific situation.
https://medlineplus.gov/lab-tests/down-syndrome-tests/ [accessed on Sep 18, 2019]
https://www.mayoclinic.org/tests-procedures/percutaneous-umbilical-blood-sampling/about/pac-20393638 [accessed on Sep 18, 2019]
https://www.nichd.nih.gov/health/topics/down/conditioninfo/diagnosis [accessed on Sep 18, 2019]
https://www.ncbi.nlm.nih.gov/pubmed/27014852 [accessed on Sep 18, 2019]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (7)
Cordiocentesis Being Performed on Human Pregnancy with Placenta towards Front
Cordiocentesis Being Performed on Human Pregnancy with Placenta towards Front
Image by TheVisualMD
3D Visualization of Fetus and Placenta
The placenta is an indispensable but temporary organ that physiologically joins the mother and the developing fetus. This remarkable, shared structure is the centerpiece of the complex dance that takes place between the needs of the mother’s body and the demands of the growing fetus. The placenta’s role is to facilitate the constant exchange of nutrients and wastes, including gases, as well as hormones and key immune factors.
Image by TheVisualMD
Nurture & Protect
As the fetus grows, there is a strict separation of maternal and fetal blood supplies. This is the work of the placenta, which allows maternal and fetal capillaries to intertwine closely enough to allow the exchange of gas, nutrient, and messenger molecules, but keeps them separate enough to prevent the triggering of an immune response. The fetus would be seen as an unwelcome invader by the mom`s immune system. The placenta serves as a traffic cop, making sure that nutrients are delivered to the fetus and wastes removed, but doing its best to keep harmful substances out. Certain pathogens such as the measles virus, and poisons such as heavy metals, drugs, and alcohol do seep through to the fetus, and can impair normal growth and development. In many cases, the timing of the exposure plays a key role in the degree of impact.
Image by TheVisualMD
The Knot close up
Image by andrechinn
Percutaneous umbilical cord blood sampling
Fetus in utero, between fifth and sixth months.
Image by Henry Gray / Gray's Anatomy
Fetal Circulation
Fetal Circulation
Image by OpenStax College
Fetal Circulation
The fetal circulatory system includes three shunts to divert blood from undeveloped and partially functioning organs, as well as blood supply to and from the placenta.
Image by OpenStax College
Cordiocentesis Being Performed on Human Pregnancy with Placenta towards Front
TheVisualMD
3D Visualization of Fetus and Placenta
TheVisualMD
Nurture & Protect
TheVisualMD
The Knot close up
andrechinn
Percutaneous umbilical cord blood sampling
Henry Gray / Gray's Anatomy
Fetal Circulation
OpenStax College
Fetal Circulation
OpenStax College
Alpha-Fetoprotein (AFP) Screening
Alpha-Fetoprotein (AFP) Screening
Also called: AFP Maternal, Maternal Serum AFP, msAFP screen, AFB
An alpha-fetoprotein (AFP) test that measures the amount of AFP in your blood. AFP levels that are too high or too low during pregnancy may indicate a birth defect in the fetus.
Alpha-Fetoprotein (AFP) Screening
Also called: AFP Maternal, Maternal Serum AFP, msAFP screen, AFB
An alpha-fetoprotein (AFP) test that measures the amount of AFP in your blood. AFP levels that are too high or too low during pregnancy may indicate a birth defect in the fetus.
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Use the slider below to see how your results affect your
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ng/mL
10
150
Your result is Normal.
AFP is a protein made by your fetus' liver. The protein passes through the placenta and into your blood.
Related conditions
An AFP test is a test that is mainly used to measure the level of alpha-fetoprotein (AFP) in the blood of a pregnant person. The test checks the baby's risk for having certain genetic problems and birth defects. An AFP test is usually done between 15 and 20 weeks of pregnancy.
AFP is a protein that a developing baby makes. Normally, some AFP passes from the baby into the pregnant person's blood. Certain conditions can make a baby's body release more or less AFP. During pregnancy, if your AFP blood levels are higher or lower than normal, it may be sign that:
The baby has a high risk of having a genetic disorder, such as:
A neural tube defect, which is a serious condition that causes abnormal development of a developing baby's brain and/or spine.
Down syndrome, a genetic disorder that causes intellectual disabilities and other health problems.
Your estimated due date is wrong. AFP levels normally rise and fall at set times during pregnancy, so an abnormal AFP may mean that your baby is due earlier or later than estimated. This is the most common reason for abnormal AFP levels.
You're pregnant with more than one baby. Each baby makes AFP, so your AFP blood levels will be higher with two or more babies.
Other names: AFP Maternal; Maternal Serum AFP; msAFP screen
An AFP blood test is used during pregnancy to check the baby's risk of birth defects and genetic disorders, such as neural tube defects or Down syndrome. The test does not diagnose any health conditions. If your AFP test results aren't normal, it means you need more testing to find out whether your baby has a health problem.
For people who aren't pregnant, an AFP test may be used to help diagnose certain cancers that may cause high AFP levels in adults. When the test is used this way, it's called an AFP tumor marker test.
If you are pregnant, AFP test is routinely offered between the 15th and 20th week of pregnancy. Your provider may especially recommend the test if you:
Have a family history of birth defects
Are 35 years or older
Have diabetes
Have used medicines or drugs during pregnancy that could harm the baby
A health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes.
You don't need any special preparation for an AFP test.
There is very little risk to you or your baby with an AFP blood test. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
The most common cause for abnormal AFP test results during pregnancy is an error estimating your due date. But a result that isn't normal may also be a sign of possible problems:
Lower than normal AFP levels may mean your baby has a genetic disorder such as Down syndrome, a genetic disorder that causes intellectual disabilities and health problems.
Higher than normal AFP levels may mean your baby has an increased risk of having a neural tube defect, such as:
Spina bifida, a condition in which the bones of the spine don't close around part of the spinal cord
Anencephaly, a condition in which the brain does not develop properly
High AFP levels may also mean that you are having more than one baby. You may also get a false-positive result. That means that your AFP results aren't normal, but your baby is healthy.
If your AFP test results aren't normal, you will likely have more tests to help make a diagnosis.
AFP tests are often part of a group of prenatal tests called multiple marker or triple screen tests. These tests can help diagnose Down syndrome, trisomy 18 (Edwards syndrome), and other genetic disorders. A triple screen test includes tests for:
Alpha-fetoprotein (AFP)
Human chorionic gonadotropin (HCG), a hormone produced by the placenta
Estriol, a form of estrogen made by the baby and the placenta
In some cases, a fourth test is included, called an inhibin A test, which helps diagnose Down syndrome.
If you have a high risk for having a baby with certain birth defects, your provider may also recommend a test called prenatal cell-free DNA (cfDNA) screening. This is blood test can be done as early as the 10th week of pregnancy. It can show if your baby has a higher chance of having Down syndrome or certain other genetic disorders.
Alpha-Fetoprotein (AFP) Test: MedlinePlus Medical Test [accessed on Feb 12, 2024]
Adigun OO, Bhimji SS. Alpha Fetoprotein (AFP, Maternal Serum Alpha Fetoprotein, MSAFP) [Updated 2017 Oct 14]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-. [accessed on Oct 03, 2018]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (10)
Newborn Screening: A Personal Story
Video by March of Dimes/YouTube
Your Newborn's Health Screening
Video by KK Women's and Children's Hospital/YouTube
Newborn Screening
Video by Mayo Clinic/YouTube
Maternal Serum Screening (MSS)
Video by Washington State Department of Health/YouTube
Anterior Total Hip Replacement- Minimally Invasive Hip Replacement
Video by alainelbazmd/YouTube
Total Hip Replacement
Video by Covenant Health/YouTube
3D Medical Animation: MicroHip, Total Hip Joint Replacement Surgery (THR) by Dr. Markus C. Michel
Video by Microhip/YouTube
Pancreatic Auto Islet Transplantation with Total Pancreatectomy
Video by Johns Hopkins Medicine/YouTube
Hip replacement
A total hip replacement is a surgical procedure whereby the diseased cartilage and bone of the hip joint is surgically replaced with artificial materials.
Image by BruceBlaus
Animation of a Total Heart Transplant
Video by UChicago Medicine/YouTube
3:25
Newborn Screening: A Personal Story
March of Dimes/YouTube
9:30
Your Newborn's Health Screening
KK Women's and Children's Hospital/YouTube
2:25
Newborn Screening
Mayo Clinic/YouTube
3:57
Maternal Serum Screening (MSS)
Washington State Department of Health/YouTube
4:51
Anterior Total Hip Replacement- Minimally Invasive Hip Replacement
alainelbazmd/YouTube
2:00
Total Hip Replacement
Covenant Health/YouTube
8:09
3D Medical Animation: MicroHip, Total Hip Joint Replacement Surgery (THR) by Dr. Markus C. Michel
Microhip/YouTube
1:57
Pancreatic Auto Islet Transplantation with Total Pancreatectomy
Johns Hopkins Medicine/YouTube
Hip replacement
BruceBlaus
1:04
Animation of a Total Heart Transplant
UChicago Medicine/YouTube
Nuchal Translucency Scan
Nuchal Translucency Scan
Also called: NT Scan, Nuchal Translucency Screening, NT Screening, Nuchal Translucency Ultrasound Screening
A nuchal translucency scan, or NT scan, is a specialized routine ultrasound performed at the end of the first trimester of pregnancy. The NT scan measures the clear (translucent) space in the tissue at the back of your baby's neck. It is used to help identify chromosomal abnormalities.
Nuchal Translucency Scan
Also called: NT Scan, Nuchal Translucency Screening, NT Screening, Nuchal Translucency Ultrasound Screening
A nuchal translucency scan, or NT scan, is a specialized routine ultrasound performed at the end of the first trimester of pregnancy. The NT scan measures the clear (translucent) space in the tissue at the back of your baby's neck. It is used to help identify chromosomal abnormalities.
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Use the slider below to see how your results affect your
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mm
2.8
Your result is Normal.
Your baby's NT scan results are normal, which means that this result alone is not expected to negatively impact the fetal health.
Related conditions
The nuchal translucency (NT) scan is an ultrasonographic test that measures the thickness of the fluid located in the back part of the neck of the fetus. Abnormal results of this test have been related to chromosomal abnormalities, hence the importance of screening.
This test is usually done during the first trimester of pregnancy along with other tests known as beta-hCG and pregnancy-associated plasma protein-A (PAPP-A), in what is commonly known as the first-trimester screening.
This test can be performed in any pregnant woman to screen for possible abnormalities in the fetus. However, its utility is being discussed, to determine whether it is useful or if it only produces extra levels of stress in the expectant parents.
Once the screening identifies a possible risk, further tests need to be done to confirm the diagnosis.
The objective of this test along with the other first-trimester screening tests is to identify a pregnant woman’s risk of having a baby with chromosomal abnormalities such as Down syndrome, Edwards syndrome, or Patau syndrome.
Your doctor may recommend this test if:
You have a history of fetal abnormalities
Familiar genetic conditions
To assess the risk of chromosome abnormalities in the fetus
You will be asked to uncover your abdomen and lie on your back. Then, a healthcare practitioner will apply a water-based gel on the skin of your belly and will place a small probe to visualize your baby on a screen.
Sometimes a transvaginal ultrasound might be needed for a better angle and image of the fetus. If this is the case, the ultrasound transductor is inserted inside the vagina, this might cause a mild sense of discomfort, but it does not pain or hurts neither the fetus or the mother.
The procedure usually takes no more than 30 minutes, and there is no need for an anesthetic because it’s painless.
You may be asked to drink plenty of fluids and refrain from urinating before the exam since having enough urine in the bladder increases the quality of the image while doing the ultrasound.
There are no risks or side effects related to this test.
A normal value for the fluid thickness is approximately less than 2.8 mm.
The higher the measure of the fluid in the fetus neck, the higher the risk of chromosomal abnormalities such as Down Syndrome or Trisomy 18.
If the nuchal translucency scan is combined with a blood test of beta-hCG and pregnancy-associated plasma protein A (PAPP-A) from the mother (commonly known as the first-trimester screening), the sensitivity of the test increases.
This test is used for screening abnormalities and not for diagnosis. Further tests have to be done to confirm a diagnosis.
The clear space that is measured in the back of the baby’s neck with this test can disappear by week 15 of pregnancy, so an NT scan should be performed during the first trimester, ideally between weeks 11 and 13th.
First Trimester Screening [accessed on Nov 14, 2018]
1STT - Clinical: First Trimester Maternal Screen [accessed on Nov 14, 2018]
Nuchal translucency | Radiology Reference Article | Radiopaedia.org [accessed on Nov 14, 2018]
NT Scan: What You’ll Find Out [accessed on Nov 14, 2018]
Nuchal Translucency Ultrasound Screening Test In 1st Trimester [accessed on Nov 14, 2018]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (7)
Medical ultrasound image. Provided as-is. Please feel free to categorise, add description, crop.
Medical ultrasound image. Provided as-is. Please feel free to categorise, add description, crop.
Image by Nevit Dilmen (talk)
Prenatal Testing: Nuchal Test (Pregnancy Health Guru)
Video by Healthguru/YouTube
Fetal Medicine Foundation - Nuchal translucency
Video by FMFoundation/YouTube
How to perform Nuchal Translucency Scan
Video by ultrasoundlink/YouTube
Nuchal Translucency Patient Information Video
Video by Queensland X-Ray/YouTube
CRL Crown rump length 12 weeks ecografia Dr. Wolfgang Moroder
Ultrasound image of the foetus at 12 weeks of pregnancy in a sagittal scan. Measurements of fetal Crown Rump Lenght (CRL).
Image by
This Photo was taken by Wolfgang Moroder.
Feel free to use my photos, but please mention me as the author and send me a message.
This image is not public domain. Please respect the copyright protection. It may only be used according to the rules mentioned here. This specifically excludes use in social media, if applicable terms of the licenses listed here not appropriate.
Please do not upload an updated image here without consultation with the Author. The author would like to make corrections only at his own source. This ensures that the changes are preserved.Please if you think that any changes should be required, please inform the author.Otherwise you can upload a new image with a new name. Please use one of the templates derivative or extract.
/Wikimedia
Coronal scan of the fetal esophagus Ecografia a ultrasuoni Dr. Wolfgang Moroder
Ultrasound image of the fetal esophagus at 19 weeks of pregnancy.
Image by
This Photo was taken by Wolfgang Moroder.
Feel free to use my photos, but please mention me as the author and send me a message.
This image is not public domain. Please respect the copyright protection. It may only be used according to the rules mentioned here. This specifically excludes use in social media, if applicable terms of the licenses listed here not appropriate.
Please do not upload an updated image here without consultation with the Author. The author would like to make corrections only at his own source. This ensures that the changes are preserved.Please if you think that any changes should be required, please inform the author.Otherwise you can upload a new image with a new name. Please use one of the templates derivative or extract.
/Wikimedia
Medical ultrasound image. Provided as-is. Please feel free to categorise, add description, crop.
Nevit Dilmen (talk)
2:42
Prenatal Testing: Nuchal Test (Pregnancy Health Guru)
Healthguru/YouTube
2:01
Fetal Medicine Foundation - Nuchal translucency
FMFoundation/YouTube
2:24
How to perform Nuchal Translucency Scan
ultrasoundlink/YouTube
7:17
Nuchal Translucency Patient Information Video
Queensland X-Ray/YouTube
CRL Crown rump length 12 weeks ecografia Dr. Wolfgang Moroder
This Photo was taken by Wolfgang Moroder.
Feel free to use my photos, but please mention me as the author and send me a message.
This image is not public domain. Please respect the copyright protection. It may only be used according to the rules mentioned here. This specifically excludes use in social media, if applicable terms of the licenses listed here not appropriate.
Please do not upload an updated image here without consultation with the Author. The author would like to make corrections only at his own source. This ensures that the changes are preserved.Please if you think that any changes should be required, please inform the author.Otherwise you can upload a new image with a new name. Please use one of the templates derivative or extract.
/Wikimedia
Coronal scan of the fetal esophagus Ecografia a ultrasuoni Dr. Wolfgang Moroder
This Photo was taken by Wolfgang Moroder.
Feel free to use my photos, but please mention me as the author and send me a message.
This image is not public domain. Please respect the copyright protection. It may only be used according to the rules mentioned here. This specifically excludes use in social media, if applicable terms of the licenses listed here not appropriate.
Please do not upload an updated image here without consultation with the Author. The author would like to make corrections only at his own source. This ensures that the changes are preserved.Please if you think that any changes should be required, please inform the author.Otherwise you can upload a new image with a new name. Please use one of the templates derivative or extract.
/Wikimedia
Pregnancy-Associated Plasma Protein-A Test
Pregnancy-Associated Plasma Protein-A Test
Also called: PAPP-A
The pregnancy-associated plasma protein-A (PAPP-A) is a protein that is normally produced by the placenta during pregnancy. This test measures the levels of this protein, which can be used to help screen for pregnancy complications and chromosomal abnormalities in the fetus.
Pregnancy-Associated Plasma Protein-A Test
Also called: PAPP-A
The pregnancy-associated plasma protein-A (PAPP-A) is a protein that is normally produced by the placenta during pregnancy. This test measures the levels of this protein, which can be used to help screen for pregnancy complications and chromosomal abnormalities in the fetus.
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Use the slider below to see how your results affect your
health.
0.5
Your result is Normal.
Your PAPP-A levels are normal, which means that this result alone is not expected to negatively impact a pregnancy or fetal health.
Related conditions
The pregnancy-associated plasma protein-A (PAPP-A) is a protein normally produced by the placenta and, consequently, it increases during pregnancy. Abnormal PAPP-A levels have been related to chromosomal abnormalities, hence the importance of screening.
This test is usually done during the first trimester of pregnancy along with other tests known as beta-hCG and nuchal translucency scan in what is commonly known as the first-trimester screening.
This test can be performed in any pregnant woman to screen for possible abnormalities in the fetus. However, its utility is being discussed, to determine whether it is useful or if it only produces extra levels of stress in the expectant parents.
Once the screening identifies a possible risk, further tests need to be done to confirm the diagnosis.
The objective of this test along with the other first-trimester screening tests is to identify a pregnant woman’s risk of having a baby with chromosomal abnormalities such as Down syndrome and Edwards syndrome.
The PAPP-A tets can also be used to assess the risk of premature birth, stillbirth, and other pregnancy complications.
Your doctor may recommend this test if:
You have a history of fetal abnormalities
Familiar genetic conditions
To assess the risk of chromosome abnormalities in the fetus
A healthcare professional takes a blood sample from a vein, generally in your arm, using a needle. A small amount of blood is collected into a test tube or vial. You may feel a little sting when the needle goes in or out.
No fasting or other preparations are needed.
You may feel a little sting when the needle is inserted and extracted but otherwise is a quick procedure. You may also experience bruising and a little bleeding, as well as mild soreness for a short amount of time after the extraction.
A normal PAPP-A value is >0.5 MoM (Multiples of Media, which is the media of unaffected pregnancies at the same gestational age)
A result lower than 0.5 MoM indicates an increased risk of the fetus having a chromosomal abnormality such as Down Syndrome or Trisomy 18; or an increased risk of having complications during the pregnancy such as preeclampsia or preterm delivery.
If the PAPP-A test is combined with a blood test of beta-hCG from the mother and with the nuchal translucency scan (commonly known as the first-trimester screening), the sensitivity of the test increases.
This test is used to screen for abnormalities and not for diagnosis. Further tests must be done to confirm a diagnosis.
Pregnancy-associated plasma protein-A - Embryology [accessed on Nov 14, 2018]
Pregnancy-associated plasma protein A (PAPP-A) and preeclampsia. - PubMed - NCBI [accessed on Nov 14, 2018]
First Trimester Screening [accessed on Nov 14, 2018]
1STT - Clinical: First Trimester Maternal Screen [accessed on Nov 14, 2018]
Variation of Papp-A Level in the First Trimester of Pregnancy and Its Clinical Outcome [accessed on Nov 14, 2018]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (34)
Embryo 36 Day Old (Week 7 for Gestational Age) Brain and Cardiovascular System
Computer Generated Image from Micro-MRI, actual size of embryo = 6.0 mm. This image offers a right-sided perspective of the internal organ development of an embryo at the beginning of six weeks. The age is calculated from the day of fertilization. Of the prominent organs displayed are those of the cardiovascular system which continue to develop at a rapid rate during this phase. The heart (seen here as somewhat shadowed red rounded structure in the medial aspect of the embryo) is the first functional organ to develop in the human embryo. The heart begins its existence as two simple tubes that quickly fuse to form a single chamber or heart tube that is busily pumping blood by the 23nd day. At around the 25th day, it exhibits four slightly bulged areas that represent the earliest heart chambers called sinus venosus, atrium, ventricle, bulbous cordis. During the next three weeks of development, the heart tube undergoes dramatic contortions so as to change its structure to become a four-chambered organ capable of acting as a double pump. This image depicts the heart at the 36th day of development. The tubes have undergone the aforementioned changes and the heart is divided into its four definitive chambers. They will assume their adult positions in just one more month. By the fourth week of development, the heart is pumping blood through the rudimentary vascular system. In the eye region (as represented by a red dot surrounded by a green ring) the lens is almost completely closed and are starting to undergo retinal pigmentation. The brain is also undergoing rapid differentiation as the irregularly shaped vesicles continue to form. The prominent uppermost bump in this image represents the future cerebellum. Continual development in the brain will bring about three major components, the forebrain, midbrain, and hindbrain.
Image by TheVisualMD
Embryo 36 Day Old (Week 7 for Gestational Age) External and Internal Anatomy
Computer Generated Image from Micro-MRI, actual size of embryo = 6.0 mm. These images offer several perspectives of the internal and external development of an embryo at the beginning of six weeks. The age is calculated from the day of fertilization. The upper left image depicts a left anterolateral view of the external anatomy of the embryo. The liver region is semi-transparent so as to display the vasculature. The upper right image reveals the a right anterior view of the internal structures of the same embryo. The lower left image illustrates limb development as seen from a superior right view. The lower right image reveals the inner structural development from the same perpective. The cardiovascular system continues to develop at a rapid rate during this phase. The heart is the first functional organ to develop in the human embryo. It begins its existence as two simple tubes that quickly fuse to form a single chamber or heart tube that is busily pumping blood by the 23nd day. At around the 25th day, it exhibits four slightly bulged areas that represent the earliest heart chambers called sinus venosus, atrium, ventricle, bulbous cordis. During the next three weeks of development, the heart tube undergoes dramatic contortions so as to change its structure to become a four-chambered organ capable of acting as a double pump. This upper and lower right hand images depict the heart at the 36th day of development. The tubes have undergone the aforementioned changes and the heart is divided into its four definitive chambers. They will assume their adult positions in just one more month. These two images also offer a clear depiction of the vessels that convey blood to and from the heart and brain. By the fourth week of development, the heart is pumping blood through the rudimentary vascular system. The blood largely bypasses the liver (as seen in the upper left, upper right and lower right images). The umbilical vessels (posterior and anterior to the heart and liver) convey blood between the fetal circulation and the placenta where gas and nutrient exchanges occur with the mothers blood. Once the fetal circulatory system is formed, few vascular changes occur until birth and the umbilical vessels close. In the eye region (as represented by a red dot surrounded by a green ring the two upper and right lower images) the lens is almost completely closed and are starting to undergo retinal pigmentation. The growing nerve endings around the spinal cord are indicated in white in the two right hand images. The brain is also undergoing rapid differentiation as the irregularly shaped vesicles continue to form. The prominent uppermost bump in these images represent the future cerebellum. Continual development in the brain will bring about three major components, the forebrain, midbrain, and hindbrain. During this phase of development the limbs buds become visible as outpocketings from the body walls (as seen in the lower left-hand image). Six week old embryos, the distal portions of the limb buds become flattened to form the handplates and footplates. Fingers and toes will develop when a process called cell death separates the these structures into five distinct parts.
Image by TheVisualMD
Embryo 44 Day Old (Week 6) Circulatory System
Computer Generated Image from Micro-MRI, actual size of embryo = 13.0 mm - This image presents a left-sided view of the embryo during the seventh week of development. The age is calculated from the day of fertilization. The primary focus is on the circulatory system; the great number of blood vessels and veins throughout the embryo's body. The heart is indicated in bright red and the large structure underneath in deep violet red is the liver. The left lung is marked in orange. The spinal region is indicated in white. The umbilical cord, a transport mechanism for nutrients and wastes between the embryo and mother is visible on the right side of the embyro
Image by TheVisualMD
Human Embryo 18 Day Old (Week 4 for Gestational Age) with Primitive Streak
This image presents a side-view of an embryo during its third week of development. The age is calculated from the day of fertilization. The embryo is attached to the uterine wall and attains a pear-shaped structure. The white line seen on the embryo is the primitive streak, which establishes the longitudinal axis of the embryo and signals the development of the right and left sides of the body. The primitive streak also indicates where the division of the brain will occur.
Image by TheVisualMD
Embryo 56 Day Old (Week 10 Gestational Age, Week 8 Fetal Age) Visible Lung and Liver
Computer Generated Image from Micro-MRI, actual size of embryo = 30 mm - This image presents a left-sided view of the embryo undergoing its eighth week of development. The age is calculated from the day of fertilization. At this point of development, all body parts have been differentiated and all body systems are in place. The right eye is indicated as the pink circle in the facial region. The arms and legs have elongated, and distinctions of fingers and toes can be observed. The heart is indicated in red and the lungs are indicated in white. The liver is the large purplish-red organ below. The pink tube-like protrusion from the embryo is the umbilical cord, which serves as a mechanism of gas exchange, nutrient delivery and waste removal.
Image by TheVisualMD
Embryo 51 Day Old (Week 9 Gestational Age, Week 7 Fetal Age) with Translucent Skin
Computer Generated Image from Micro-MRI, actual size of embryo = 18.0 mm - This image provides a left-sided view of the embryo undergoing its eighth week of development. The age is calculated from the day of fertilization. The image has been manipulated so that the skin appears translucent so that the internal organs can be observed. The embryo still maintains a semblance of a curvature with the head bent downwards, but due to the strengthening neck muscles, the curve has decreased. The brain is highlighted orange. The large red structure in the trunk of the embryo is the liver. The red, tube-like structure protruding outwards from the embryo is the umbilical cord, a which serves as a mechanism for gas exchange, nutrient delivery and waste removal. Outlined in yellow are the arms and legs which have elongated. The hand plates have undergone distinction earlier than foot plates.
Contained entirely within the nurturing space of the womb, the developing embryo cannot eat or breathe, and therefore must obtain all nutrients from other sources. For the first nine weeks, the early embryo depends on the yolk sac of the embryo for nourishment. Inside the yolk sac, tiny structures called 'blood islands' form. These will become the first blood and the first blood vessels. As pregnancy continues, these important external structures develop into the embryo's link to the mother's system - the umbilical cord and the supporting network known as the placenta. Until birth, the developing embryo is completely dependent on the mother for nutrients and waste disposal through the umbilical cord and the placenta.
Image by TheVisualMD
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20 Week Old Fetus and Placenta
Lateral view of fetus, approximately 20 weeks within the placenta. Womb environment is nondescript and rendered in dark red and black. Camera zooms in. Skin appears translucent showing underlying structures. The shape of the brain is closer to its final one but is still smooth and has no definition yet. Its development is ongoing years after birth.
Video by TheVisualMD
Blastocyst Implanted in the Uterine Wall with coagulation plug
Computer - This image depicts the blastocyst implanted to the uterine wall. The structure of the blastocyst consists of inner cells, called embryoblasts, and of outer cells, called trophoblasts. Early implantation occurs around the sixth day after fertilization. Trophoblasts penetrate into the uterine epithelium wall and by the eleventh and twelfth day, the blastocyst is embedded in the endometrium, which lines the inside wall.
Image by TheVisualMD
Chromosome Arrangement for Blastomere Formation
Computer Generated Image from Micro-MRI, actual size of zygote = 0.1 mm - This image illustrates the alignment and arrangement of chromosomes, highlighted in bright glowing white. A zygote is made up of a total of 46 chromosomes; 23 which are inherited from the mother and 23 from the father. The spindle fibers (indicated in orange) pull apart the chromosomes from the middle during cell division.
Image by TheVisualMD
Embryo 6 Week Old Skeletal System
3D visualization reconstructed from scanned human data of the developing skeletal system of a six week old embryo. During this phase of development, the foreshadowing cartilaginous models of bone begin to ossify and terminal portions of the limb buds become flattened to form the hand plates and footplates, the future hands and feet. Growing outward from the middle of the shaft, the long bones that give the body its adult contours continue to grow until the age of 17 to 21.
Image by TheVisualMD
Circulatory System of a Human Embryo
Computer Generated Image from Micro-MRI of the circulatory system of an embryo. The image has been manipulated so the skin is transparent so as to reveal the circulatory system. One of the first systems to develop in the embryo, the heart can be seen near the center in the image, highlighted in bright red. Blood vessels extend from the heart, carrying blood to supply oxygen and nutrients to other parts of the body. The two gray orb-like structures in the head region indicate the developing eyes.
Image by TheVisualMD
Cardiovascular System of 44 Day Old Embryo
3D visualization based on scanned human data of a 44-day-old embryo. Focus is on the cardiovascular system. Before birth, the cardiovascular system has no use for the lungs. Gases are exchanged via the mother, and blood returning from the body to the right atrium is shunted either to the left atrium through a temporary opening called the foremen ovale, an oval-shaped window, or the thicker-walled right ventricle.
Image by TheVisualMD
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7 week old embryo
Slow zoom out from an extreme close up of the face and than back to a close up of a face of a Carnegie19 stage, about 7 weeks old embryo. Well developed eyes, nasal openings and separated fingers are already present.
Video by TheVisualMD
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Embryo Inside Womb Carnegie Stage 16
Room full of women doing yoga. Slow zoom into one of the woman's torso to reveal the womb and an embryo at Carnegie stage 16, about 40 days developing. The Micro Magnetic Resonance Imaging based visualization reveals upper limb buds that are paddle-shaped and lower limb buds that are flipper-like. The heart is the prominent pink structure at the center of the embryo. Right above the heart is the first and second pharyngeal arches which have overgrown to make the third and forth arches indistinct.
Video by TheVisualMD
This browser does not support the video element.
Embryo at Carnegie Stage 18
Creative take showing a water bottle transitioning into an embryo. When the water bottle is removed from the table, it is replaced with an embryo at Carnegie stage 18, about 44 days. As the camera zooms on the embryo the background fades to black. The eye and external ear auricle are distinct. The heart is represented by the red structure in the centre with the chambers beginning to take shape. The hand and foot plates are more also more distinct.
Video by TheVisualMD
This browser does not support the video element.
Embryo at Carnegie Stage 20
Camera zooms into a computer monitor with an image of an embryo at Carnegie stage 20, about 51 does on it. The image of the embryo transitions to a 3-D SEM-looking embryo. The camera rotates around the embryo to give a 360 view of all sides. At this stage the embryo's fingers are separated and the toes are beginning to separate. the nose is stubby and the eye is pigmented.
Video by TheVisualMD
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Embryo at Carnegie Stage 14
Environment is within the womb with an embryo at Carnegie stage 14, about 32-day developing. The embryo is encompassed within the amniotic sac and situated beside the fetus is the yolk-sac. Different camera angles rotate around the embryo. Through the amniotic sac, the fetus' heart is represented by the red structure in the centre. The 4 chambers or the heart have developed. The arm and feet plates are visible.
Video by TheVisualMD
Embryo 44 Day Old
Embryo 44 Day Old: A view inside the embryo at 42 days shows that the neural buds along the spinal cord are clearly developed. These tiny buds now are merely one-tenth the width of a human hair and will grow to more than half an inch in some cases. It is noticeable that the hands of the embryo are more defined, rays show up between fingers. The stomach and liver are also visible. At this time, the embryo develops a sense of smell.
Image by TheVisualMD
Brain Development of Human Embryo
The first period of development is call the embryonic period, which begins with fertilization and ends eight weeks later. During this period, the embryo undergoes extraordinary changes in a relatively short time. From Day 28 to Day 50 it grows considerably in size--three to four times the original mass. Early signs are the expansion of spaces within the brain called ventricles, followed by the creation of new nervous tissue. Because of the brain's complexity, development takes place from head to toe.
Image by TheVisualMD
6 Week Old Embryo with Undifferentiated Gonad
Three-dimensional visualization reconstructed from scanned human data. Lateral view of an embryo at 6 weeks, with internal undifferentiated gonad development visible. Structures shown include the eye, 1st, 2nd, and 3rd pharyngeal arches, upper and lower limb buds, and tail, as well as the umbilical cord connecting the embryo to the surrounding chorionic sac. At 6 weeks of development, male and female fetuses look identical both internally and externally. At this stage internal gonad development consists of two undifferentiated ducts: the Mullerian ducts, and the Wolffian ducts. External genital development consists of an indifferent penis, which will either form into a penis and scrotum or clitoris and labia. Differentiation of the gonads begins after the 6th week, while external genital differentiation starts a little later, after the 7th week.
Image by TheVisualMD
Brain of Embryo Cross Section
Early signs are the expansion of spaces within the brain called ventricles, followed by the creation of new nervous tissue. Because of the brain's complexity, development takes place from head to toe.
Image by TheVisualMD
Embryo 56 Day Old Heart and Blood Vessel
Computer Generated Image from Micro-MRI, actual size of embryo = 30.0 mm - This image provides a right-sided perspective of an embryo during its eighth week of development. The age is calculated from the day of fertilization. The skin has been made translucent so that internal organs can be observed. The brain is highlighted in yellow-orange. Red blood vessels branching from the functionally complete, four-chambered heart, indicated in red, extend towards the brain. In the facial region, the red circle indicates the eye. The liver, shown in pale yellow, is situated below the heart.
Image by TheVisualMD
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Cleavage in Developing Embryo
Being shown is the embryonic cleavage or rapid division of a zygote to form a multicellular morula. A morula is an embryo at an early stage of embryonic development, consisting of approximately 12-32 cells (blastomeres) in a sold ball contained within the zona pellucida.
Video by TheVisualMD
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Embryo at Carnegie Stage 19 Cardiovascular System
Lateral view of a woman doing a sit up on the floor. Camera zooms into woman's pelvic area to reveal an embryo at Carnegie stage 19, about 48 days. As the embryo rotates, all of its structures dissolve away to only leave the cardiovascular system. By this stage, the embryo's cardiovascular system is a vast and intricate system needed to fuel its growth.
Video by TheVisualMD
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Embryo at Carnegie Stage 14
Environment is within the womb of an embryo at Carnegie stage 14, about 32 days, developing. The embryo is encompassed within the amniotic sac and situated beside the fetus is the yolk-sac. Different camera angles rotate around the fetus. Through the amniotic, the fetus' heart is represented by the red structure in the centre. The 4 chambers heart can be see beating at the camera rotates from behind. The arm and feet plates are visible.
Video by TheVisualMD
This browser does not support the video element.
Embryo at Carnegie Stage 16
Camera view from the underside of an embryo at Carnegie stage 16, about 40 days. View is of the tail and the foot plates.
Video by TheVisualMD
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Embryo at Carnegie Stage 18
Lateral view of a woman doing a sit up on the floor. Camera zooms into woman's pelvic area to reveal an embryo at Carnegie stage 18, about 44 days. As the embryo rotates, all of its structures dissolve away to only leave the cardiovascular system. By this stage, the embryo's cardiovascular system is a vast and intricate system needed to fuel its growth.
Video by TheVisualMD
Embryos at 44 Days (8 for Gestational Age) with Circulatory System
Through rotation and gradual imaging techniques, these human fetal visualizations show the vast amount of blood circulation needed to fuel the extraordinary growth of a 44-day-old fetus. The images at the bottom show only the circulatory system. The blood transports so many substances and does so many jobs it's hard to name them. Chiefly, though, it moves oxygen and food to all parts of the body while taking away waste chemicals. This process necessarily begins in the first week, and by twenty days watertight tubes branch throughout the embryo. The system grows \"ahead\" of the baby, proliferating in all directions like highways on a busy map, stimulating new areas of development. (Understanding how blood vessels are laid down in relation to cellular reproduction has provided some of the most hopeful recent insights against cancer.) After birth this network also serves to provide the baby with central heat, distributing warmth evenly through the body, from busy parts like the heart to cooler areas like still muscles. Please see our Infant Nutrition Health Center.
Image by TheVisualMD
Implantation (human embryo)
Illustration of Implantation of a human embryo
Image by OpenStax College
9-Week Human Embryo from Ectopic Pregnancy
The size (2cm in length) and anatomic features suggest development equivalent to a nine-week pregnancy (or seven weeks post ovulation). In obstetrics, pregnancy is dated from the first day of the last menstrual period, which is about two weeks prior to the ovulation that resulted in the pregnancy
Image by Ed Uthman
Tubal Pregnancy with embryo
This photo of an opened oviduct with an ectopic pregnancy features a spectacularly well preserved 10-millimeter embryo. It is uncommon to see any embryo at all in an ectopic, and for one to be this well preserved (and undisturbed by the prosector's knife) is quite unusual.
Even an embryo this tiny shows very distinct anatomic features, including tail, limb buds, heart (which actually protrudes from the chest), eye cups, cornea/lens, brain, and prominent segmentation into somites. The gestational sac is surrounded by myriad chorionic villi resembling elongated party balloons. This embryo is about five weeks old (or seven weeks in the biologically misleading but eminently practical dating system used in obstetrics).
Image by Ed Uthman, MD
Embryo and Fetus Development
Embryo and Fetus Development, placenta and amniotic sac
Image by TheVisualMD
Brain Development of 29 Day Old Embryo
Brain Development of 33 Day Old Embryo
Brain Development of 52 Day Old Embryo
Brain Development of 59 Day Old Human Embryo
Brain Development of 70 Day Old Human Embryo
Brain Development of 20 Week Old Human Fetus
Brain Development of 6 Month Old Human Fetus
Brain Development of Adult
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Brain development from embryo to adult
The cerebral cortex--the most prominent feature when we think of a human brain--derives from the forebrain. This region is responsible for reason, planning, emotion, and problem solving, and by the end of the second trimester it is the primary visible structure. If you examine the surface of the cerebral cortex, you'll see convoluted folds; the raised surfaces are known as gyri and the \"trenches\" are sulci. These irregular folds provide greater surface area for cell-to-cell communication and interaction, increasing the brain's complexity.
Interactive by TheVisualMD
Embryo 36 Day Old (Week 7 for Gestational Age) Brain and Cardiovascular System
TheVisualMD
Embryo 36 Day Old (Week 7 for Gestational Age) External and Internal Anatomy
TheVisualMD
Embryo 44 Day Old (Week 6) Circulatory System
TheVisualMD
Human Embryo 18 Day Old (Week 4 for Gestational Age) with Primitive Streak
TheVisualMD
Embryo 56 Day Old (Week 10 Gestational Age, Week 8 Fetal Age) Visible Lung and Liver
TheVisualMD
Embryo 51 Day Old (Week 9 Gestational Age, Week 7 Fetal Age) with Translucent Skin
A multiple marker test is a blood test for pregnant women. It is used to screen for certain types of birth defects (such as neural tube defects, Down syndrome, and trisomy 18 syndrome).
A multiple marker test is a blood test for pregnant women. It is used to screen for certain types of birth defects (such as neural tube defects, Down syndrome, and trisomy 18 syndrome).
This blood test provides information about your developing baby. The maternal serum multiple marker test measures at least three markers found in the mother’s blood: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol. These substances are made by the developing baby and the placenta. The levels of these markers can be analyzed through a simple blood sample. Certain birth defects can sometimes be detected when the levels of these markers are different than expected. Some laboratories will measure additional chemicals to achieve a higher detection rate for these conditions.
Maternal serum multiple marker test is sometimes called triple test, AFP plus, enhanced AFP, AFP3 test or triple screen prenatal risk profile (PRP). When the blood is being tested for four markers, the test may be called the quad screen or AFP4, etc.
The test is a simple blood test on the mother’s blood and poses no threat to the mother or to her baby.
The test is available to any pregnant woman between 15 and 21 weeks of pregnancy (counting from the first day of the last menstrual period). Your provider may especially recommend the test if you:
Have a family history of birth defects
Have diabetes
Have used medicines or drugs during pregnancy that could harm the baby
If you are 35 or older, your healthcare provider will probably suggest you have an amniocentesis or CVS test instead of or in addition to the maternal serum screening.
A health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes.
No fasting or other preparations are needed.
There is very little risk to you or your baby with a blood test. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
Maternal serum multiple marker screening is not a diagnostic test, but a screening test. A positive or abnormal result indicates the need for additional testing, such as ultrasound or amniocentesis. An abnormal test does not necessarily mean there is a definite health problem with the pregnancy. Genetic counseling to discuss this test is recommended.
Elevations in AFP may –
identify a high percentage of neural tube defects including anencephaly;
detect a miscalculated due date;
identify twins or a pregnancy with multiples;
detect an abnormal opening in the abdominal wall;
predict risk for preterm delivery;
determine a low birth weight; or
represent a normal variation.
If the result is negative or normal, it means that it is unlikely that your baby has a birth defect. However, a normal result doesn't guarantee that you will have a normal pregnancy or baby.
Alpha-Fetoprotein (AFP) Test: MedlinePlus Medical Test [accessed on Feb 12, 2024]
Determining Your Baby's Risk of Birth Defects. Illinois Department of Public Health. [accessed on Feb 12, 2024]
Prenatal Test: Multiple Marker Test (for Parents) - Nemours KidsHealth. Mar 7, 2022 [accessed on Feb 12, 2024]
Second Trimester Maternal Serum Screening [accessed on Nov 14, 2018]
Second Trimester Maternal Serum Screening Programmes [accessed on Nov 14, 2018]
Quad Screen Test - American Pregnancy Association [accessed on Nov 14, 2018]
Quad screen - Mayo Clinic [accessed on Nov 14, 2018]
Quadruple screen test: MedlinePlus Medical Encyclopedia [accessed on Nov 14, 2018]
Additional Materials (4)
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Prenatal Diagnostic Testing
If a pregnant woman has an abnormal genetic screening test result, a doctor may suggest a prenatal diagnostic test be done to determine with more certainly whether or not a fetus has a particular disorder. There are two main diagnostic testing procedures, chorionic villus sampling (CVS) and amniocentesis. Both of these tests involve collecting a sample from inside the womb, which is then examined to detect diseases such as Down Syndrome, Edwards Syndrome, neural tube defects, cystic fibrosis, fragile-x, and spinal muscular atrophy. Prenatal diagnostic tests provide valuable information on the health of the fetus and can help alleviate the stress of expectant parents.
Video by TheVisualMD
Genes and Genetic Defects
Genetic testing isn't new. In the 1960s, doctors were able to test newborn babies for certain rare single-gene disorders, such as phenylketonuria (PKU), a rare metabolic disease that causes mental retardation. (PKU can be prevented with a special diet if it's detected early, which was why it was critical to test newborns.)
Image by TheVisualMD
Mapping Your Future: Screening for Disease Risk
Image by TheVisualMD
Amniocentesis
Amniocentesis is a prenatal test that gathers information about a fetus` health from a sample of amniotic fluid. Amniotic fluid is the fluid that surrounds the fetus in the uterus. It contains cells from the fetus that naturally slough off during development. If a woman is at high risk for a genetic disease, a doctor may recommend an "amnio" to determine whether a fetus has certain genetic disorders, such as cystic fibrosis, among other diseases.
Image by TheVisualMD
4:34
Prenatal Diagnostic Testing
TheVisualMD
Genes and Genetic Defects
TheVisualMD
Mapping Your Future: Screening for Disease Risk
TheVisualMD
Amniocentesis
TheVisualMD
E3
Unconjugated Estriol Test
Also called: uE3
Estriol (E3) is a hormone that belongs to a group of steroids called estrogens. E3 is mainly produced by the placenta in pregnant women, and its levels can be unbalanced when abnormalities in the fetus are present. Unconjugated Estriol (UE3) helps screen for maternal-fetal diseases.
Unconjugated Estriol Test
Also called: uE3
Estriol (E3) is a hormone that belongs to a group of steroids called estrogens. E3 is mainly produced by the placenta in pregnant women, and its levels can be unbalanced when abnormalities in the fetus are present. Unconjugated Estriol (UE3) helps screen for maternal-fetal diseases.
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Use the slider below to see how your results affect your
health.
ng/mL
4.2
14.9
Your result is Normal.
Your UE3 results are normal. However, reference ranges can vary depending on the gestational age and the method used for testing by the laboratory. Furthermore, it lacks value as a stand-alone result and must be correlated with the other two or three markers (AFP, hCG, and Inhibin A) of a Triple or Quad screen.
Related conditions
Estrogens are a group of steroids that are implicated in the development and function of female reproductive organs and secondary sexual characteristics (such as breasts enlargement), while also playing a role in menstrual cycle regulation and pregnancy maintenance.
Even though these hormones have been considered to be exclusively female hormones, they are also involved in bone metabolism and growth in both males and females.
There are three types of estrogens, which are estrone (E1), estradiol (E2), and estriol (E3).
Estriol is produced by the placenta in pregnant women, increases throughout the course of pregnancy and peaks at term. This makes E3 the principal pregnancy estrogen, and it does not play a significant function in either men or non-pregnant women.
An unconjugated estriol test measures the amount of this hormone that it's not bound to proteins in a sample of your blood.
The unconjugated estriol test is used as part of the second-trimester screening in pregnant women. Usually, your doctor will order it along with some other tests in what is collectively called a triple or quad maternal serum screening.
Your doctor may recommend this test if you are currently in the second trimester of pregnancy and have increased risk factors of having a baby with a genetic disorder such as Down syndrome or Edwards syndrome.
A healthcare professional takes a blood sample from a vein, generally in your arm, using a needle. A small amount of blood is collected into a test tube or vial. You may feel discomfort when the needle goes in or out.
No fasting or other preparations are needed.
You may feel discomfort when the needle is inserted and extracted but otherwise is a quick procedure. You may also experience bruising and a little bleeding, as well as mild soreness for a short amount of time after the blood extraction.
The normal range for UE3 is considered to be from 4.2 ng/mL to 14.9 ng/mL. However, reference ranges can vary depending on the gestational age and the method used for testing by the laboratory.
Low levels of UE3 during the second trimester of pregnancy suggests an increased risk of fetal malformations such as neural tube defects, Down syndrome, Edwards syndrome, Smith-Lemly-Opitz syndrome, anencephaly, adrenal insufficiency, and X-linked ichthyosis.
High levels of UE3 have been seen in cases of congenital adrenal hyperplasia and also associated with pending labor because UE3 rises approximately 4 weeks before onset of labor.
This test is one of the markers for the Triple or Quad Test. The result of this test as a stand-alone value does not have significance itself and needs to be correlated with the other three markers (AFP, hCG, and Inhibin A) results, along with the maternal age, gestational stage, and medical history to reach an accurate diagnosis.
This test is not commonly available alone, but rather within other groups of tests such as the triple screen (AFP, Hcg, UE3) or Quad screen (Triple test + inhibin A) tests.
Estriol Unconjugated Test - Test Results, Normal Range, Cost And More [accessed on Nov 14, 2018]
UE3 - Clinical: Estriol, Unconjugated, Serum [accessed on Nov 14, 2018]
Low Maternal Serum Unconjugated Estriol During Prenatal Screening as an Indication of Placental Steroid Sulfatase Deficiency and X-Linked Ichthyosis | American Journal of Clinical Pathology | Oxford Academic [accessed on Nov 14, 2018]
Second Trimester Maternal Serum Screening [accessed on Nov 14, 2018]
Indication of prenatal diagnosis in pregnancies complicated by undetectable second-trimester maternal serum estriol levels [accessed on Nov 14, 2018]
DEFINE_ME [accessed on Nov 14, 2018]
Second Trimester Maternal Serum Screening Programmes [accessed on Nov 14, 2018]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (7)
This browser does not support the video element.
Prenatal Genetic Screening
Prenatal genetic screening tests can play an important role in the development of a healthy fetus. Ideally, parents will undergo a carrier screening before conception. This allows a couple to find out the chances that they will have a child with a certain genetic diseases. Carrier screenings help determine inherited risks such as cystic fibrosis, fragile-x, and spinal muscular atrophy.
Video by TheVisualMD
Estradiol, Estrone, And Estriol, How Do They Differ?
Video by EmpowHER/YouTube
Estriol (E3)
A hydroxylated metabolite of ESTRADIOL or ESTRONE that has a hydroxyl group at C3, 16-alpha, and 17-beta position. Estriol is a major urinary estrogen. During PREGNANCY, a large amount of estriol is produced by the PLACENTA. Isomers with inversion of the hydroxyl group or groups are called epiestriol.
Estrogen Molecule
Medical visualization of an estrogen molecule. Estrogen, as with all of the other main sex hormones, is a steroid hormone derived from cholesterol. Along with progesterone, estrogen is one of the most important female sex hormones. Estrogen production is primarily located in the developing follicles in the ovaries, called the corpus luteum, and the placenta. Another main site of estrogen production is fatty tissue, making weight a contributing factor to the timing of puberty. Smaller amounts are produced by other tissues such as the the breasts, liver, and adrenal glands. Estrogen is responsible for female secondary sexual characteristics such as breast growth, as well as aspects of menstrual cycle regulation, such as the thickening of the endometrium. As with all sex hormones, the effects of estrogen aren't limited to reproduction; estrogen affects bone growth and is involved with learning and memory. Both men and women have all of the main sex hormones, but in very different amounts. Women have much more estrogen than men, but some research suggests that estrogen may be essential for maintenance of the male libido, or sex drive.
Image by TheVisualMD
Estrogens: Pregnancy
Estrone (E1) and estradiol (E2) are the two main estrogens in non-pregnant females, while estriol (E3), produced by the woman's placenta and liver of the fetus, is the main hormone of pregnancy.
Image by TheVisualMD
Embryo and Fetus Development, placenta and amniotic sac.
Embryo and Fetus Development, placenta and amniotic sac. Unconjugated estriol (uE3), a hormone produced by the placenta and the baby
Image by TheVisualMD
Estrogen Molecules
Estrogens are a group of steroids that function as the main female sex hormones. More than 20 forms exist, but the most common forms of estrogens tested are estrone (E1), estradiol (E2), and estriol (E3). Total estrogens are most commonly measured in blood or urine. E1 and E2 are the two main estrogens in non-pregnant females, while E3 is the main pregnancy hormone (Progesterone is another major female hormone that also plays key roles in pregnancy and menstruation). High levels of estrogen may accompany early onset of puberty, tumors of the ovary, hyperthyroidism and cirrhosis (and in males, breast enlargement or tumors of the testes). Low levels of estrogen may be due to hypopituitarism, genetic disorders, pregnancy complications, post menopause or extreme exercise.
Image by TheVisualMD
4:15
Prenatal Genetic Screening
TheVisualMD
3:34
Estradiol, Estrone, And Estriol, How Do They Differ?
EmpowHER/YouTube
Estriol (E3)
Estrogen Molecule
TheVisualMD
Estrogens: Pregnancy
TheVisualMD
Embryo and Fetus Development, placenta and amniotic sac.
TheVisualMD
Estrogen Molecules
TheVisualMD
Hearing Tests for Children
Hearing Tests for Children
Also called: Pediatric Audiometry
Hearing tests for children measure how well your child can hear. A child can be born with a hearing problem or develop one later on. If your child is diagnosed with hearing loss, you may be able to take steps to treat or manage the condition.
Hearing Tests for Children
Also called: Pediatric Audiometry
Hearing tests for children measure how well your child can hear. A child can be born with a hearing problem or develop one later on. If your child is diagnosed with hearing loss, you may be able to take steps to treat or manage the condition.
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Use the slider below to see how your results affect your
health.
dB
15
25
40
55
70
90
Your result is Normal hearing.
Hearing threshold levels (the quietest sounds you can hear) are measured in decibels (dB) at different frequencies from low (500 Hz) to high (8000 Hz). The range for normal hearing is 0 to 15 dB. The full safe range of human hearing ranges from -10 to 120 dB.
Related conditions
Hearing tests measure how well your baby or child can hear different sounds. Some babies are born with hearing problems. Other children are born with normal hearing and begin to have hearing problems later in childhood.
Hearing loss in infancy and early childhood can delay a child's ability to talk, understand spoken language, and develop social skills. Hearing tests can find problems early so that children with hearing loss can be treated and get help learning language skills as soon as possible.
Hearing depends on a series of steps that change sound waves into electrical signals that the brain understands as sounds. Hearing loss happens when there's a problem with any of these steps:
Sound waves enter the outer ear and travel to the eardrum in the middle ear.
The soundwaves vibrate the eardrum, which sends the vibrations to tiny bones that make the vibrations stronger.
The vibrating bones make tiny waves in the fluid that's inside the cochlea. The cochlea is a snail-shaped structure in the inner ear. It is lined with sensory cells that have hair-like structures. When the hair cells move with the fluid waves, they create electrical signals.
The auditory (hearing) nerve carries the electrical signals from the inner ear to the brain, which turns them into sounds you can recognize and understand.
There are three main types of hearing loss:
Conductive hearing loss happens when sound waves can't reach the inner ear. Earwax or abnormal fluid in the ear may be blocking the path, or a hole in the eardrum may prevent it from vibrating. Ear infections are a common cause of this type of hearing loss in infants and young children. Medical treatment or surgery can often improve hearing.
Sensorineural hearing loss (also called nerve deafness) happens when there's damage to the cochlea in the inner ear or the auditory nerve. This type of hearing loss ranges from mild (difficulty hearing certain sounds) to profound (not hearing any sound). The hearing loss is usually permanent, but it can improve with hearing aids or other devices.
Mixed hearing loss is a combination of both sensorineural and conductive hearing loss.
One type of sensorineural hearing loss is called auditory neuropathy spectrum disorder (ANSD). With ANSD, there's problem with how the inner ear or the hearing nerve sends sound to the brain. This type of hearing disorder may happen if your child has health problems before or during birth or as a newborn. These problems include premature birth (being born too soon), low birth weight, and jaundice. ANSD may also be caused by a genetic disorder.
Other names: audiometry; audiography, audiogram, sound test
Hearing screening tests are used to find out if a newborn, baby, or child may have hearing loss. These quick pass/fail tests show whether your child needs more testing. They can't diagnose hearing loss.
More complete hearing tests are used to diagnose hearing loss if your child doesn't pass a screening test, or if you have concerns about your child's hearing. These tests can show which type of hearing loss your child has and how severe it is.
Routine hearing screening tests are recommended for all babies and children:
Newborns should have a screening test for hearing problems by 1 month of age.
If you give birth in a hospital, the screening test is usually done before your baby goes home.
If you give birth at home, make sure to get your baby tested during the first month after birth.
Children should have their hearing checked before they enter school. School-aged children may have hearing screening tests as part of their regular health checkups. The tests are often done in school, too.
More complete hearing tests are needed any time there is a concern about your child's hearing:
If your baby doesn't pass the newborn hearing screening test, your baby will need complete hearing tests as soon as possible, but no later than 3 months of age.
If your baby passes the newborn hearing screening test, but has a high risk for developing hearing loss, your baby will need complete hearing tests between 24 to 30 months of age. Your baby's risk may be higher if childhood hearing loss runs in your family or if your baby had certain infections. Ask your baby's provider about your baby's risk level.
If your baby or child shows signs of hearing loss, contact your child's provider as soon as possible.
Signs of hearing loss in a baby include:
Not jumping or being startled at loud noises
After 6 months of age, not turning toward a sound
By 12 months of age, not saying a few simple words, such as "dada" or "mama"
Signs of hearing loss in children include:
Unclear speech
Not following directions
Often saying, "Huh?"
Turning the TV volume up too high
Learning problems
Hearing tests depend on your child's age and ability to follow instructions:
Hearing screening tests for newborns, infants, and very young children can measure hearing without needing your child to cooperate. These tests can even be done while your child sleeps:
Auditory brainstorm (ABR) tests check the inner ear, the hearing nerve, and parts of the brain that are involved with hearing. During an ABR test:
The provider will place electrodes (small sensors that stick to the skin) on the scalp. The electrodes are connected to a computer.
Tiny, soft earphones will be placed inside the ears.
The earphones will play sounds.
The electrodes measure how the brain responses to the sounds. The results are shown on the computer.
Otoacoustic emissions (OAE) tests check for damage in the hair cells in the cochlea. During an OAE test:
A small device will be placed in the ear. It can make sound and measure sound.
Sound from the device makes the fluid in the cochlea ripple, which moves the hair cells. When the hairs move, they make vibrations that have their own sound called OAEs.
The device measures OAEs to see how well the hair cells are working. If the test shows little or no OAEs, your child may have sensorineural hearing loss.
Hearing screening tests for older children are usually audiometry tests. These tests check the quietest sounds or words that your child can hear. For these tests:
Your child will wear headphones. If your child won't wear headphones, sounds may be played through speakers in a sound booth.
For a pure-tone test, each time your child hears a tone they will raise their hand, push a button, or say that they heard the sound.
For a speech test (also called speech discrimination testing), your child will hear simple words at different levels of loudness. Some words will be spoken over noise. Your child will repeat the words they hear.
Audiometry tests can be adapted for very young children and infants. For young children, the tests may include a game to help them pay attention to the sounds. For example, a child may put a block in a box each time they hear a sound.
For infants and toddlers, the provider will watch for behavior changes that show the child heard a sound. For example, an infant may start sucking a pacifier or look to see where the sound came from. When the child responds to a sound, they get to see a moving toy as a reward.
More complete hearing tests will be done if your child doesn't pass a hearing screening test. Your child's provider will usually refer you to a hearing specialist, such as:
A pediatric audiologist, a health care professional who is trained to test hearing, diagnose hearing loss, and provide hearing devices and services to improve hearing in children.
A pediatric otolaryngologist (ENT), a doctor who specializes in diagnosing and treating ear conditions in children. This type of provider may also be called a pediatric otologist.
During a complete hearing exam, your child may have several types of hearing tests that examine different parts hearing. These tests may include an ABR and/or an OAE test for children who were screened with audiometry tests. Other common tests include:
Tympanometry. This test checks how well the eardrum and bones in the middle ear are working. Your child will need to sit very still, so this test usually isn't used for infants or young children. During the test:
A small device will be placed in your child's ear.
The device will send air and sound into the ear, which makes the eardrum move. Your child will feel the air pressure.
A machine records the movements of the eardrum on graphs called tympanograms.
If the eardrum doesn't move normally, your child may have fluid or wax buildup in the ear, a hole in the eardrum, a tumor in the ear, middle ear bones that don't vibrate well, or another problem in the middle ear.
Acoustic Reflex Measures, also called middle ear muscle reflex (MEMR) test. This test shows how the ear responds to loud sounds. Normally, a tiny muscle inside the ear tightens to protect your ear when you hear loud noises. If unusually loud noises are needed to trigger the muscle to tighten, or if it doesn't tighten at all, your child may have hearing loss. To do the test:
A small device will be placed in your child's ear.
The device will make loud sounds.
A machine will show if the sound triggered the ear muscle to tighten.
There are no special preparations for a hearing test. But it's helpful to tell you child what to expect. Let your child know they will hear sounds. If you have a pair of headphones, you might let your child try them on to see what they feel like.
There is no risk to having hearing tests.
If your child's hearing screening test shows normal hearing, your child usually won't need more hearing tests until their next routine screening. But if you have concerns about your child's hearing or if your child has risks for hearing loss, talk with your child's provider about getting more complete hearing tests.
If the results of complete hearing tests show that your child has hearing loss, the results will also show how severe it is, which ear is affected more, and whether they have conductive sensorineural, or both types of hearing loss.
With conductive hearing loss, treatment may be able to restore your child's hearing. The treatment will depend on what's blocking sound from reaching the inner ear. It may include removing wax, draining fluid, or doing surgery to fix problems with the eardrum or ear bones.
With sensorineural hearing loss, the loss of hearing is permanent. But your child's hearing may improve with hearing aids or surgery to implant a device called a cochlear implant.
Other treatment and support options for hearing loss in children include:
Working with professionals who can help children and their families learn to communicate. This may include learning sign language, lip reading, or other ways to communicate.
Education to help your child learn communication skills.
Assistive devices, such as devices for using the telephone and alerting your child to alarms, doorbells, and other sounds.
Support groups.
If you have questions about your child's hearing and treatment, talk with your child's primary care provider or hearing specialist.
Hearing Tests for Children: MedlinePlus Medical Test [accessed on Feb 06, 2024]
Additional Materials (27)
Pediatrician examines a child
Lt. Cmdr. Dorey Harlan, a pediatrician assigned to the Military Sealift Command hospital ship USNS Mercy (T-AH 19), examines a child during a medical community service event at the Damril Clinic in Kampong Cham, Cambodia.
Image by U.S. Navy photo by Mass Communication Specialist 2nd Class Jon Husman
Newborn hearing screening
Sarah Thompson, daughter of Senior Airman Josh Thompson, 1st Special Operations Wing, has an ear bud placed in her ear prior to her newborn hearing screening. The screening measures otoacoustic emissions, which are sounds produced by the outer hair cells within the inner ear. It is common practice for babies born on base and a state-mandated procedure in Florida. (U.S. Air Force photo/Samuel King Jr.)
Image by U.S. Air Force photo/Samuel King Jr.
auditory technician, performs a hearing test on a newborn baby
Hospital Corpsman 2nd Class Derrick Villalobos, an auditory technician, performs a hearing test on a newborn baby at Naval Medical Center San Diego. A physical assessment is performed in the first 24 hours of life and includes blood work, hearing tests and a head-to-toe examination. More than 300 babies are born per month at the medical center.
Image by U.S. Navy photo by Mass Communication Specialist 3rd Class Amanda L. Kilpatrick
Infographic Newborn screening system
Infographic Newborn screening system
Image by Colorado Department of Public Health and Environment
Newborn Hearing Screening - Boys Town National Research Hospital
Video by BoysTownHospital/YouTube
Testing a Child's Hearing - Boys Town National Research Hospital
Video by BoysTownHospital/YouTube
Information about newborn hearing tests
Video by CNN/YouTube
Newborn Hearing Testing Screening (OAE and ABR)
Video by Fauquier ENT/YouTube
When should I have my child's hearing tested?
Video by Ascension Via Christi/YouTube
Mayo Clinic Minute: Why your child needs a hearing test
Video by Mayo Clinic/YouTube
Newborn Hearing Screening
Video by Health Science Channel/YouTube
Caring For Your Newborn
Video by Dartmouth-Hitchcock/YouTube
Tips for teaching deaf children with a mild hearing loss
Video by National Deaf Children's Society/YouTube
My Baby Has a Hearing Loss: A Starting Guide for Parents
Video by California Speech Language Hearing Association/YouTube
Hearing Loss in Children: Strategies for Better Communication | Boston Children's Hospital
Video by Boston Children's Hospital/YouTube
Is your child's hearing loss genetic?
Video by Michigan Medicine/YouTube
How Newborn Hearing Screening Helps Children
Video by Washington State Department of Health/YouTube
Newborn Hearing Testing - WVU Medicine Health Report
Video by WVU Medicine/YouTube
Mayo Clinic Minute: When older adults need a hearing exam
Video by Mayo Clinic/YouTube
Mayo Clinic Minute: Importance of screening your newborn's hearing
Video by Mayo Clinic/YouTube
Routine ear check-up
Maj. James Tschudy, a pediatrician with the 6th Medical Operations Squadron, examines a patient’s ear during a routine check-up at MacDill Air Force Base, Fla., April 21, 2016. Military children go through the same aches, illnesses and injuries that most children do, but often with the added stress of a recent PCS, parent’s deployments and military lifestyles. (U.S. Air Force photo by Senior Airman Jenay Randolph)
Image by U.S. Air Force photo by Senior Airman Jenay Randolph
Assessing Baby's Reaction to Sound
Image by tung256/Pixabay
3-week-old infant receives a hearing test
Wyatt Worsley, 3-week-old son of U.S. Navy Petty Officer 2nd Class Clayton Worsley, Norfolk Naval Base, receives a hearing test from U.S. Air Force Major Jennifer Carey, 633d Medical Group chief of audiology services, during his after birth screening July 13,. Major Carey volunteers to care for newborn patients when the labor and delivery clinic needs the extra help.
Image by U.S. Air Force photo/Staff Sgt. Ashley Hawkins
Diagram of tympanometry
Diagram of tympanometry
Image by Scott Martin, translation of File:Tympanometrie Schema1.svg by Welleschik into English
How to Conduct a Tuning Fork Test
Video by American Academy of Otolaryngology—Head and Neck Surgery/YouTube
What is Auditory Brainstem Response (ABR) Testing?
Video by Interacoustics/YouTube
ABR Case Study: Normal Hearing
Video by Interacoustics/YouTube
Pediatrician examines a child
U.S. Navy photo by Mass Communication Specialist 2nd Class Jon Husman
Newborn hearing screening
U.S. Air Force photo/Samuel King Jr.
auditory technician, performs a hearing test on a newborn baby
U.S. Navy photo by Mass Communication Specialist 3rd Class Amanda L. Kilpatrick
Infographic Newborn screening system
Colorado Department of Public Health and Environment
1:54
Newborn Hearing Screening - Boys Town National Research Hospital
BoysTownHospital/YouTube
3:17
Testing a Child's Hearing - Boys Town National Research Hospital
BoysTownHospital/YouTube
2:10
Information about newborn hearing tests
CNN/YouTube
3:51
Newborn Hearing Testing Screening (OAE and ABR)
Fauquier ENT/YouTube
2:36
When should I have my child's hearing tested?
Ascension Via Christi/YouTube
1:01
Mayo Clinic Minute: Why your child needs a hearing test
Mayo Clinic/YouTube
3:56
Newborn Hearing Screening
Health Science Channel/YouTube
24:44
Caring For Your Newborn
Dartmouth-Hitchcock/YouTube
2:46
Tips for teaching deaf children with a mild hearing loss
National Deaf Children's Society/YouTube
19:46
My Baby Has a Hearing Loss: A Starting Guide for Parents
California Speech Language Hearing Association/YouTube
5:53
Hearing Loss in Children: Strategies for Better Communication | Boston Children's Hospital
Boston Children's Hospital/YouTube
2:14
Is your child's hearing loss genetic?
Michigan Medicine/YouTube
3:02
How Newborn Hearing Screening Helps Children
Washington State Department of Health/YouTube
1:40
Newborn Hearing Testing - WVU Medicine Health Report
WVU Medicine/YouTube
1:01
Mayo Clinic Minute: When older adults need a hearing exam
Mayo Clinic/YouTube
1:00
Mayo Clinic Minute: Importance of screening your newborn's hearing
Mayo Clinic/YouTube
Routine ear check-up
U.S. Air Force photo by Senior Airman Jenay Randolph
Assessing Baby's Reaction to Sound
tung256/Pixabay
3-week-old infant receives a hearing test
U.S. Air Force photo/Staff Sgt. Ashley Hawkins
Diagram of tympanometry
Scott Martin, translation of File:Tympanometrie Schema1.svg by Welleschik into English
4:34
How to Conduct a Tuning Fork Test
American Academy of Otolaryngology—Head and Neck Surgery/YouTube
9:04
What is Auditory Brainstem Response (ABR) Testing?
Interacoustics/YouTube
13:18
ABR Case Study: Normal Hearing
Interacoustics/YouTube
Diagnosis
Prenatal Testing: What to Expect During a First Prenatal Visit
Image by TheVisualMD
Prenatal Testing: What to Expect During a First Prenatal Visit
An ultrasound is a simple test during pregnancy that will give your healthcare provider a detailed look at your baby's progress. Learn helpful tips for what to expect and how to stay healthy while pregnant.
Image by TheVisualMD
How Do Health Care Providers Diagnose IDDs?
The diagnosis of an intellectual disability is typically made through a test of intelligence or cognition, often assessed by the range of scores on an Intelligence Quotient (IQ) test. This type of test will help the health care provider examine the abilities of a person to learn, think, solve problems, and make sense of the world. Average IQ test score is around 100, and 85% of children with an intellectual disability score in the range of 55 to 70. More severe cases of intellectual disability generally have lower IQ scores.
Clinicians will also observe a child’s behavior for signs of a disability and assess adaptive behavior. Adaptive behaviors include coping skills and other behaviors that show how a child interacts with other people.Health care providers can use this information to assess whether the individual has the skills needed to care for oneself and interact with others.
Some conditions that lead to IDDs may be diagnosed with a blood test, ultrasound, or another method, depending upon the condition. These tests may be conducted after birth or during pregnancy.
Newborn screening relies on testing blood samples taken from newborns while they are still in the hospital to help identify certain serious or life-threatening conditions, including some that lead to IDDs. Most tests use a few drops of blood obtained by pricking the infant’s heel. If a screening test suggests a problem, the infant’s doctor will follow up with further testing.
Prenatal Screening
Health care providers recommend that certain pregnant women, including those who are older than 35 years of age and those with a family history of certain conditions, have their fetuses tested prenatally, while still in the womb, for conditions that cause IDD. There are two main types of prenatal tests.
Amniocentesis
Amniocentesis is a test that is usually performed to determine whether a fetus has a genetic disorder. In this test, a doctor takes a small amount of fluid from the womb using a long needle. The fluid, called amniotic fluid, contains cells that have genetic material that is the same as the fetus’s genetic material. A laboratory grows the cells and then examines their genetic material for any problems. Some IDDs that can be detected with amniocentesis are Down syndrome and certain types of muscular dystrophy.
Because amniocentesis can cause a miscarriage in about 1 out of 200 cases, it is usually only recommended for pregnancies in which the risk of genetic disorders or other problems is high.
Chorionic Villus Sampling (CVS)
This test extracts cells from inside the womb to determine whether the fetus has a genetic disorder. Using a long needle, the doctor takes cells from the chorionic villi, which are tissues in the placenta, the organ in the womb that nourishes the fetus. The genetic material in the chorionic villus cells is identical to that of the fetal cells.
Like amniocentesis, CVS can be used to test for chromosomal disorders such as Down syndrome and other genetic problems. CVS can be done earlier in pregnancy than amniocentesis, but it is also associated with a higher risk of miscarriage—about 1 in 100 cases. Healthcare providers usually only recommend CVS in women who are at high risk for a condition or IDD.
Source: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Additional Materials (1)
Let's Talk About Intellectual Disabilities: Loretta Claiborne at TEDxMidAtlantic
Video by TEDx Talks/YouTube
11:35
Let's Talk About Intellectual Disabilities: Loretta Claiborne at TEDxMidAtlantic
TEDx Talks/YouTube
Treatment
Occupational Therapy
Image by U.S. Navy photo by Mass Communication Specialist 1st Class Brien Aho
Occupational Therapy
VIRGINIA BEACH, Va. (March 6, 2010) Occupational Therapist Judy Anderson exercises muscles in ten-year-old Joseph Camano's lower back during a routine physical therapy session at the Diane Epplein & Assoc. Pediatric Therapy facility. Camano was born with no legs and a malformed right arm and he and his father, Lt. Cmdr. Santiago Camano, are enrolled in the Exceptional Family Member Program (EFMP), a service-wide initiative designed to interface closely with the detailing process to ensure family members receive the care they require and service members can fulfill their career requirements and goals.
Image by U.S. Navy photo by Mass Communication Specialist 1st Class Brien Aho
What Are Treatments for IDDs?
Many IDDs have no cure, but there are often ways to treat their symptoms. For example:
Children with Down syndrome, Fragile X syndrome, Rett syndrome, and other IDDs can often benefit from therapeutic speech therapy, occupational therapy, and exercises to improve their gross- and fine-motor skills. They might also be helped by special education and attention at school and by the efforts of parents, educators, and healthcare practitioners to encourage social contact and communication. In addition, for children with Down syndrome, surgery can help correct heart defects that may be present.
A variety of treatment options are available to help with the symptoms of autism spectrum disorders. Options may include behavioral, occupational, physical, and speech-language therapy. In addition, educational specialists can help guide the child’s school experiences.
Treatment for hypothyroidism, or underactive thyroid, includes daily oral hormone treatment.
The most effective treatment for phenylketonuria (PKU) is a special diet that carefully limits intake of the amino acid phenylalanine. People with PKU who begin this diet at birth or shortly thereafter develop normally and usually have no symptoms of PKU. It is important that individuals with PKU stay on the special diet through adolescence and that women with PKU continue the diet before and during pregnancy to promote the best health outcomes.
Source: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Additional Materials (2)
#TomorrowsDiscoveries: Intellectual Disability Treatments — Dr. Hans Bjornsson
Video by Johns Hopkins Medicine/YouTube
Transitioning to Adulthood: Intellectual Disability & Developmental Disability
Video by Children's Mercy Kansas City/YouTube
1:31
#TomorrowsDiscoveries: Intellectual Disability Treatments — Dr. Hans Bjornsson
Johns Hopkins Medicine/YouTube
3:26
Transitioning to Adulthood: Intellectual Disability & Developmental Disability
Children's Mercy Kansas City/YouTube
Oral Health
Child Dental Health
Image by UCLA School of Dentistry
Child Dental Health
Pediatric dentistry clinic at the UCLA Venice Dental Center
Image by UCLA School of Dentistry
Developmental Disabilities and Oral Health
Overview
Developmental disabilities such as autism, cerebral palsy, Down syndrome, and other cognitive disabilities create challenges in accomplishing daily activities, especially self-care activities. People with these disabilities may need extra help to achieve and maintain good health, which includes oral health. To achieve and maintain good oral health, people with mild or moderate developmental disabilities often require a special approach to dental care.
Health Challenges:
Mental capabilities will vary from person to person and may have an impact upon how well someone can follow directions in a dental office and at home.
Behavior problems can complicate oral health care. For example, anxiety caused by a developmental disability may make someone uncooperative.
Mobility problems may require a person to use a wheelchair or a walker to move around. Access to the dental operatory and chair may require special arrangements and assistance with patient transfer. Longer appointment times may be needed.
Neuromuscular problems can affect the mouth. Some people with disabilities have persistently rigid or loose chewing muscles, or have drooling, gagging, and swallowing problems that complicate oral care.
Uncontrolled body movements can jeopardize safety and the ability to deliver oral care.
Cardiac disorders, particularly mitral valve prolapse and heart valve damage, are common in people with developmental disabilities such as Down syndrome. Consult a cardiologist to determine the need for pre-treatment antibiotics.
Gastroesophageal reflux sometimes affects people with central nervous system disorders such as cerebral palsy. Teeth may be sensitive or display signs of erosion.
Seizures accompany many developmental disabilities. Patients may chip teeth or bite the tongue or cheeks during a seizure.
Visual impairments and Hearing Loss and Deafness may also be present in people with developmental disabilities.
Latex allergies may be more likely in people with developmental disabilities.
Oral Health Problems:
Tooth decay is common in people with developmental disabilities.
Periodontal (gum) disease occurs more often and at a younger age in people with developmental disabilities. Difficulty performing effective brushing and flossing may be an obstacle to successful treatment and outcomes.
Malocclusion occurs in many people with developmental disabilities, which can make chewing and speaking difficult and increase the risk of periodontal (gum) disease, dental caries, and oral trauma.
Damaging oral habits such asteeth grinding and clenching,food pouching, mouth breathing, and tongue thrusting can be a problem for people with developmental disabilities.
Oral malformations may cause enamel defects, high lip lines with dry gums, and variations in the number, size, and shape of teeth.
Delayed tooth eruption may occur in children with developmental disabilities such as Down Syndrome. Children may not get their first baby tooth until they are 2 years old.
Trauma and injury to the mouth from falls or accidents may occur in people with seizure disorders or cerebral palsy.
Helpful Tips
FOR CAREGIVERS
Taking care of someone with a developmental disability requires patience and skill. As a caregiver, you know this as well as anyone does. You also know how challenging it is to help that person with oral health care. It takes planning, time, and the ability to manage physical, mental, and behavioral problems. Oral care isn't always easy, but you can make it work for you and the person you help.
Brush every day. Depending on whether the person you care for is able to brush his or her teeth, you may need to take on the job of brushing their teeth yourself, or modify the toothbrush to accommodate physical limitations to allow the person to continue brushing his or her own teeth.
Floss regularly. Some people with developmental disabilities may find flossing a real challenge. You may need to do the flossing yourself, or obtain aids such as floss holders or floss picks.
Visit a dentist regularly. Professional cleanings are an important part of maintaining good oral health. It may take time for the person you care for to become comfortable at the dental office. A "get-acquainted" visit with no treatment provided might help to familiarize them with the office and the exam routine before a real visit.
FOR DENTAL PROFESSIONALS
Providing oral care to patients with developmental disabilities requires adaptation of the skills you use every day. Most people with mild or moderate developmental disabilities can be treated successfully in the general practice setting.
As a dental professional you also need to be aware of the special challenges – behavioral, physical, and cognitive – that someone who arrives at the dental office with developmental disabilities may have. Learning appropriate skills and techniques to meet the unique oral health needs of people with developmental disabilities will help you be successful in delivering care to these patients.
Below are some general tips to help you adjust to the special oral health care needs of people with developmental disabilities.
Determine your patient's mental capabilities and communication skills. Talk with the patient and their caregivers about how the patient's abilities might affect oral health care. Be receptive to their thoughts and ideas on how to make the experience a success.
Set the stage for a successful visit. Involve the entire dental team--from the receptionist to the dental assistant.
Observe if physical manifestations of the disability(ies) are present. How does the patient move? Look for challenges such as uncontrolled body movements or problems with sitting in the dentist’s chair.
Ask if the patient has an allergy to latex before you begin treatment. Latex allergies can be life threatening.
Source: National Institute of Dental and Craniofacial Research (NIDCR)
Additional Materials (1)
NYU Dentistry Oral Health Center for People with Disabilities
Video by NYUDentistry/YouTube
4:16
NYU Dentistry Oral Health Center for People with Disabilities
NYUDentistry/YouTube
See a Doctor
Pediatrician examines a child
Image by U.S. Navy photo by Mass Communication Specialist 2nd Class Jon Husman
Pediatrician examines a child
Lt. Cmdr. Dorey Harlan, a pediatrician assigned to the Military Sealift Command hospital ship USNS Mercy (T-AH 19), examines a child during a medical community service event at the Damril Clinic in Kampong Cham, Cambodia.
Image by U.S. Navy photo by Mass Communication Specialist 2nd Class Jon Husman
What Should I Do If I Think My Child Has an IDD?
If you suspect that your child has an IDD, you should first talk with the child’s healthcare provider. If the healthcare provider thinks there might be a problem, you should then see a developmental pediatrician or another specialist.
You can also contact your local early-intervention agency (for children under the age of 3 years) or public school (for children aged 3 years or older).
In addition, your local school system can provide help in diagnosing a child’s condition and evaluating her/his educational needs as part of the Individuals with Disabilities Education Act (IDEA), which aims to ensure educational services to children with disabilities throughout the nation.
Source: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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Intellectual and Developmental Disabilities
Intellectual and development disabilities (IDDs) are differences, usually present at birth, that affect an individual’s physical, intellectual, and/or emotional development. The problems are usually life-long, and can affect multiple body parts or systems. Learn more about IDDs and how therapy can help.