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Swyer Syndrome

Table of Contents

Swyer Syndrome

46,XY Complete Gonadal Dysgenesis; 46,XY CGD; 46,XY Sex Reversal; XY Gonadal Dysgenesis

Swyer syndrome is a rare genetic condition affecting sexual organ development. People with Swyer syndrome have one X chromosome and one Y chromosome, normally present in males, but are born with female external genitalia. Read about the symptoms and features of someone with this condition, and possible therapeutic options to treat associated issues.

Fetal Development

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About

Male and Female Reproductive Systems

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Male and Female Reproductive Systems

Male and Female Genitals Reproductive system

Image by TheVisualMD

What Is Swyer Syndrome?

Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern.

Chromosomes contain the genetic instructions for how the body develops and functions. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female reproductive structures. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals have one X chromosome and one Y chromosome in each cell, which is the pattern typically found in boys and men; however, they have female reproductive structures.

People with Swyer syndrome have female external genitalia and some female internal reproductive structures. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These structures are called streak gonads. The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. Swyer syndrome is also called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” means "abnormal development."

Because they appear female on the outside, babies with Swyer syndrome are usually raised as girls and develop a female gender identity, which is a person's sense of their gender (girl, boy, a combination, or neither). Swyer syndrome may be identified before birth, at birth, or later when a child does not go through puberty as usual. Because they do not have functional ovaries that produce hormones, affected individuals often begin hormone replacement therapy during early adolescence to start puberty, causing the breasts and uterus to grow, and eventually leading to menstruation. Hormone replacement therapy is also important for bone health and helps reduce the risk of low bone density (osteopenia) and fragile bones (osteoporosis). Women with Swyer syndrome do not produce eggs (ova), but if they have a uterus, they may be able to become pregnant with a donated egg or embryo.

Source: MedlinePlus Genetics

Additional Materials (4)

How Can You Be a Boy and a Girl? | Strange Sex

Video by TLC/YouTube

Disorders of Sexual Differentiation (DSD): Dr. Khoury, CHOC Children's

Video by CHOC Children's/YouTube

Faking It | 9 Things You Need to Know About Being Intersex | MTV

Video by MTV/YouTube

There Are More Than Two Human Sexes

Video by SciShow/YouTube

1:54

How Can You Be a Boy and a Girl? | Strange Sex

TLC/YouTube

1:55

Disorders of Sexual Differentiation (DSD): Dr. Khoury, CHOC Children's

CHOC Children's/YouTube

2:02

Faking It | 9 Things You Need to Know About Being Intersex | MTV

MTV/YouTube

13:40

There Are More Than Two Human Sexes

SciShow/YouTube

Causes

SRY - Structure of TDF protein

Image by AtikaAtikawa/Wikimedia

SRY - Structure of TDF protein

Image by AtikaAtikawa/Wikimedia

What Causes Swyer Syndrome?

In many individuals with Swyer syndrome, the cause is unknown. However, variants (also known as mutations) in one of several genes have been found to cause the condition in some affected individuals.

Variants in the SRY gene have been found in approximately 15 percent of individuals with Swyer syndrome. The SRY gene, located on the Y chromosome, provides instructions for making a protein called sex-determining region Y. This protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The sex-determining region Y protein starts processes that are involved in male-typical sex development. These processes cause a fetus to develop male gonads (testes) and genitals and prevent the development of female internal reproductive structures (uterus, fallopian tubes, and upper part of the vagina) and genitals. SRY gene variants that cause Swyer syndrome prevent production of the sex-determining region Y protein or result in the production of a nonfunctioning protein. Without functional sex-determining region Y protein, a fetus will not develop testes but will develop female-typical internal and external reproductive structures, despite having an X and a Y chromosome.

Swyer syndrome can also be caused by variants in the MAP3K1 gene; research indicates that variants in this gene may account for up to 18 percent of cases. The MAP3K1 gene provides instructions for making a protein that helps control various processes in the body, including processes of determining sex characteristics before birth. The variants in the MAP3K1 gene that cause Swyer syndrome decrease signaling that leads to male-typical sex development and increase signaling that leads to female-typical sex development. These changes in signaling prevent the development of testes and allow the development of female reproductive structures.

Variants in the DHH and NR5A1 genes have also been identified in a small percentage of people with Swyer syndrome. The DHH gene provides instructions for making a protein that is important for early development of tissues in many parts of the body. The NR5A1 gene provides instructions for producing a protein called steroidogenic factor 1 (SF1). This protein helps control the activity of several genes related to sex development and the production of sex hormones. Variants in the DHH and NR5A1 genes disrupt the process of sex development, preventing affected individuals with a 46,XY karyotype from developing testes and causing them to develop female reproductive structures.

Changes affecting other genes have also been identified in a few people with Swyer syndrome. Nongenetic factors, such as hormonal medications taken by the mother during pregnancy, have very rarely been associated with this condition.

Source: MedlinePlus Genetics

Additional Materials (3)

SRYgene

Video by Physiological Psychology/YouTube

An introduction to genetic mutations | Biomolecules | MCAT | Khan Academy

Video by khanacademymedicine/YouTube

The causes of genetic mutations | Biomolecules | MCAT | Khan Academy

Video by khanacademymedicine/YouTube

3:38

SRYgene

Physiological Psychology/YouTube

5:24

An introduction to genetic mutations | Biomolecules | MCAT | Khan Academy

khanacademymedicine/YouTube

5:14

The causes of genetic mutations | Biomolecules | MCAT | Khan Academy

khanacademymedicine/YouTube

SRY Gene

Ideogram of human chromosome Y

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

Ideogram of human chromosome Y

Selected genes, traits, and disorders associated with the chromosome listed; (blue and violet) regions reflecting the unique patterns of light and dark bands seen on human chromosomes stained to allow viewing through a light microscope; (red) the centromere, or constricted portion, of each chromosome; (yellow) chromosomal regions that vary in staining intensity and sometimes are called hererochromatin (meaning “different color”); (lines between yellow) variable regions, called stalks, that connect a very small chromosome arm (a “satellite”) to the chromosome.

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

SRY Gene: Sex Determining Region Y

Normal Function

The SRY gene provides instructions for making a protein called the sex-determining region Y protein. This protein is involved in male-typical sex development, which usually follows a certain pattern based on an individual's chromosomes. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype).

The SRY gene is found on the Y chromosome. The sex-determining region Y protein produced from this gene acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein starts processes that cause a fetus to develop male gonads (testes) and prevent the development of female reproductive structures (uterus and fallopian tubes).

Health Conditions Related to Genetic Changes

Swyer syndrome

Variants (also called mutations) in the SRY gene have been identified in approximately 15 percent of individuals with Swyer syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. Swyer syndrome is a condition that affects sex development. Individual with this condition have a male-typical chromosome pattern (46,XY karyotype), but they develop female-typical sex characteristics.

SRY gene variants that cause Swyer syndrome prevent production of the sex-determining region Y protein or result in the production of a nonfunctioning protein. Without functional sex-determining region Y protein, a fetus will not develop testes but will develop a uterus and fallopian tubes, despite having an X and a Y chromosome.

46,XX testicular difference of sex development

Changes affecting the SRY gene have been found to cause 46,XX testicular difference of sex development. Individuals with this condition have a female-typical chromosome pattern (46,XX karyotype) but develop male sex characteristics, including testes, though they may be small and undescended.

In most individuals with 46,XX testicular difference of sex development, the condition results from an abnormal exchange of genetic material (translocation) between the Y chromosome and another chromosome, most often the X chromosome. This exchange occurs as a random event during the formation of sperm cells in the affected person's father. In this condition, the SRY gene (which is on the Y chromosome) is misplaced, almost always onto an X chromosome. A fetus with an X chromosome that carries the SRY gene will develop male sex characteristics despite not having a Y chromosome.

Other disorders

SRY gene variants that impair the function of the sex-determining region Y protein have been identified in a small number of people with 46,XY difference of sex development, or partial gonadal dysgenesis. The effects of these variants on the function of the sex-determining region Y protein is likely less severe than those of variants that cause Swyer syndrome (described above). Individuals with 46,XY difference of sex development have a male-typical chromosome pattern (46,XY karyotype), but they have external genitalia that do not look clearly male or clearly female or other abnormalities of the genitals and reproductive organs.

Translocations that misplace the SRY gene onto an X chromosome cause about 10 percent of cases of a condition called ovotesticular difference of sex development. Individuals with this condition have a female-typical chromosome pattern (46,XX karyotype) and tissue from both female and male reproductive organs (ovarian and testicular tissue).

Other Names for This Gene

essential protein for sex determination in human males
sex determining region protein
sex-determining region on Y
SRY_HUMAN
TDF
TDY
testis-determining factor

Genomic Location

The SRY gene is found on the Y chromosome.

Source: MedlinePlus Genetics

DHH Gene

Ideogram of human chromosome 12

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

Ideogram of human chromosome 12

Selected genes, traits, and disorders associated with the chromosome listed; (blue and violet) regions reflecting the unique patterns of light and dark bands seen on human chromosomes stained to allow viewing through a light microscope; (red) the centromere, or constricted portion, of each chromosome; (yellow) chromosomal regions that vary in staining intensity and sometimes are called hererochromatin (meaning “different color”); (lines between yellow) variable regions, called stalks, that connect a very small chromosome arm (a “satellite”) to the chromosome.

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

DHH Gene: Desert Hedgehog Signaling Molecule

Normal Function

The DHH gene provides instructions for making a member of the hedgehog protein family. Hedgehog proteins are important for early development in many parts of the body. The protein produced from the DHH gene is believed to be involved in male-typical sex development and in the formation of the perineurium, the protective membrane around each bundle of fibers within a nerve.

Health Conditions Related to Genetic Changes

Swyer syndrome

DHH gene variants (also called mutations) have been identified in a small number of people with Swyer syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. Swyer syndrome is a condition that affects sex development. Affected individuals have two altered copies of the DHH gene in each cell.

Sex development usually follows a particular pattern based on an individual's chromosomes. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), and boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). However, individuals with Swyer syndrome have a male-typical chromosome pattern (46,XY karyotype), but they develop female-typical sex characteristics.

Variants in the DHH gene in people with Swyer syndrome affect the process of sex development, preventing affected individuals with a 46,XY karyotype from developing male gonads (testes) and causing them to develop female reproductive structures (a uterus and fallopian tubes).

Other disorders

DHH gene variants have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. These individuals have one altered DHH gene in each cell. They may have external genitalia that do not look clearly male or clearly female or other changes in the genitals and reproductive organs.

Some people with the features of 46,XY disorder of sex development caused by DHH gene variants also have nerve abnormalities. This combination of features is a condition called 46,XY gonadal dysgenesis with minifascicular neuropathy. The nerve abnormalities affect nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Affected individuals may experience weakness and loss of sensation in their extremities (peripheral neuropathy).

Other Names for This Gene

desert hedgehog homolog (Drosophila)
DHH_HUMAN
HHG-3
MGC35145

Genomic Location

The DHH gene is found on chromosome 12.

Source: MedlinePlus Genetics

NR5A1 Gene

Ideogram of human chromosome 9

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

Ideogram of human chromosome 9

Selected genes, traits, and disorders associated with the chromosome listed; (blue and violet) regions reflecting the unique patterns of light and dark bands seen on human chromosomes stained to allow viewing through a light microscope; (red) the centromere, or constricted portion, of each chromosome; (yellow) chromosomal regions that vary in staining intensity and sometimes are called hererochromatin (meaning “different color”); (lines between yellow) variable regions, called stalks, that connect a very small chromosome arm (a “satellite”) to the chromosome.

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

NR5A1 Gene: Nuclear Receptor Subfamily 5 Group A Member 1

Normal Function

The NR5A1 gene provides instructions for producing a transcription factor called the steroidogenic factor 1. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Steroidogenic factor 1 helps control the activity of several genes related to the development of the gonads (ovaries and testes) and the adrenal glands, which are small glands located on top of each kidney. The adrenal glands produce several hormones that regulate many essential functions in the body.

Health Conditions Related to Genetic Changes

Swyer syndrome

NR5A1 gene variants (also called mutations) have been identified in a small number of people with Swyer syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. Swyer syndrome is a condition that affects sex development.

Sex development usually follows a particular pattern based on an individual's chromosomes. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). However, individuals with Swyer syndrome have a male-typical chromosome pattern (46,XY karyotype), but they develop female-typical sex characteristics.

Variants in the NR5A1 gene in people with Swyer syndrome impair the function of steroidogenic factor 1. These changes affect the process of sex development, preventing affected individuals with a 46,XY karyotype from developing testes and causing them to develop female reproductive structures (a uterus and fallopian tubes).

46,XX testicular difference of sex development

MedlinePlus Genetics provides information about 46,XX testicular difference of sex development

Other disorders

NR5A1 gene variants have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals may have external genitalia that do not look clearly male-typical or clearly female-typical or other abnormalities of the genitals and reproductive organs. Affected individuals may also have abnormalities of the adrenal glands, which may cause hormone deficiencies, resulting in a variety of health problems. NR5A1 gene variants that cause 46,XY disorder of sex development impair the function of steroidogenic factor 1, though likely to a lesser extent than variants that cause Swyer syndrome (described above).

NR5A1 gene variants that affect gonadal development and function have also been identified in people whose gonads do not produce reproductive cells (eggs or sperm). These conditions, which are called spermatogenic failure in men and primary ovarian insufficiency in women, result in an inability to conceive children (infertility).

Other Names for This Gene

AD4BP
adrenal 4 binding protein
ELP
FTZ1
FTZF1
fushi tarazu factor homolog 1
hSF-1
nuclear receptor AdBP4
nuclear receptor subfamily 5, group A, member 1
SF-1
SF1
steroid hormone receptor Ad4BP
steroidogenic factor 1
STF1_HUMAN

Genomic Location

The NR5A1 gene is found on chromosome 9.

Source: MedlinePlus Genetics

Inheritance

Modern Understandings of Inheritance

Image by CNX Openstax (credit: modification of work by “LPLT”/Wikimedia Commons; scale-bar data from Matt Russell)

Modern Understandings of Inheritance

Chromosomes are threadlike nuclear structures consisting of DNA and proteins that serve as the repositories for genetic information. The chromosomes depicted here were isolated from a fruit fly’s salivary gland, stained with dye, and visualized under a microscope. Akin to miniature bar codes, chromosomes absorb different dyes to produce characteristic banding patterns, which allows for their routine identification. (credit: modification of work by “LPLT”/Wikimedia Commons; scale-bar data from Matt Russell)

Image by CNX Openstax (credit: modification of work by “LPLT”/Wikimedia Commons; scale-bar data from Matt Russell)

How Is Swyer Syndrome Inherited?

Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases often result from new (de novo) variants in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Noninherited cases can rarely result from nongenetic causes.

SRY-related Swyer syndrome is usually caused by a new variant that is not inherited from either parent. However, some individuals with Swyer syndrome inherit an altered SRY gene from an unaffected father who is mosaic for the variant. Mosaic means that an individual has the variant in some cells (which can include some reproductive cells) but not in others. Because he has some cells that do not have the genetic variant, he does not have the condition and is able to have children; however, he can pass the variant to his offspring. In rare cases, a father may carry the variant in every cell of the body but also has other genetic variations that prevent him from being affected by the condition. Because the SRY gene is on the Y chromosome, Swyer syndrome caused by SRY gene variants is described as having a Y-linked inheritance pattern.

When Swyer syndrome is associated with an MAP3K1 or NR5A1 gene variant, the condition is also often caused by a new variant that is not inherited. In the rare inherited cases, the variant may be inherited from either parent, because these genes are not on the Y chromosome; however, only children with an XY chromosome pattern are affected (the condition is said to be sex-limited). In inherited cases, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. However, the parent with the genetic variant typically does not have signs and symptoms.

Swyer syndrome caused by variants in the DHH gene is inherited in a sex-limited autosomal recessive pattern, which means both copies of the gene in each cell have variants, and only individuals with an XY chromosome pattern are affected. The parents of an individual with an autosomal recessive condition each have one copy of the altered gene, and they typically do not have signs and symptoms of the condition.

Source: MedlinePlus Genetics

Additional Materials (3)

Mutations (Updated)

Video by Amoeba Sisters/YouTube

Part 1: How Does New Genetic Information Evolve? Point Mutations

Video by Stated Clearly/YouTube

Studying Genetic Mutations and Rare Disease - A Conversation with Dr Wendy Chung

Video by Rare Disease Report/YouTube

7:14

Mutations (Updated)

Amoeba Sisters/YouTube

7:03

Part 1: How Does New Genetic Information Evolve? Point Mutations

Stated Clearly/YouTube

4:25

Studying Genetic Mutations and Rare Disease - A Conversation with Dr Wendy Chung

Rare Disease Report/YouTube

Symptoms

Caster Semenya 2010 Memorial Van Damme

Image by Erik van Leeuwen/Wikimedia

Caster Semenya 2010 Memorial Van Damme

Semenya is an intersex woman, with 5α-Reductase 2 deficiency, assigned female at birth, with XY chromosomes and naturally elevated testosterone levels caused by the presence of internal testes. (Wikipedia)

Image by Erik van Leeuwen/Wikimedia

What Are the Signs and Symptoms of Swyer Syndrome?

The following list includes the most common signs and symptoms in people with Swyer syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list also does not include every symptom or feature that has been described in Swyer syndrome.

Signs and symptoms may include:

Female external genitals
46,XY chromosomes
Delayed or absent puberty
Absent menstrual periods (primary amenorrhea)
Undeveloped ovaries or testes (streak gonads)

Most people with Swyer syndrome are raised and identify as female. They may have no symptoms until adolescence when they do not go through puberty and or start their periods. Hormone replacement therapy can help to develop secondary sexual characteristics such as breasts, pubic hair, and a regular menstrual cycle. People with Swyer syndrome are infertile, but may be able to get pregnant through egg donation and artificial reproductive technologies.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (2)

Biology of DSDs (6) Swyer Syndrome

Video by Paradox Institute/YouTube

Secret Intersex: Neither Boy Nor Girl (Medical Documentary) | Real Stories

Video by Real Stories/YouTube

6:55

Biology of DSDs (6) Swyer Syndrome

Paradox Institute/YouTube

48:47

Secret Intersex: Neither Boy Nor Girl (Medical Documentary) | Real Stories

Real Stories/YouTube

Can Women Experience Orgasms?

Sexual Intercourse

Image by Harry Gouvas

Sexual Intercourse

Sex in MRI scan

Image by Harry Gouvas

Can Women with Swyer Syndrome Experience Orgasms?

There have been conflicting reports regarding the sexual experiences of individuals affected by disorders of sexual development (DSD). Some reports have stated that the majority of individuals with 46,XY DSD (including Swyer syndrome) experience increased sexual problems and impairment of sexual function; others report that the majority of individuals with DSD report having experienced orgasm. More specifically, a 2006 study by McCarty et al which investigated the psychosexual outcome of 3 women with Swyer syndrome stated that all 3 affected women reported the ability to achieve orgasm. Although these reports do not specify that affected individuals can regularly reach climax during sexual activity, they do indicate that women with Swyer syndrome can experience orgasm.

Source: Genetic and Rare Diseases (GARD) Information Center

Is It Possible to Experience Normal Menstruation?

What are the symptoms of menstruation?

Image by National Institute of Child Health and Human Development

What are the symptoms of menstruation?

This diagram illustrates how the endometrium builds up and breaks down during the menstrual cycle.

Image by National Institute of Child Health and Human Development

Is It Possible for Someone with Swyer Syndrome to Naturally Start Their Period at a Typical Age?

Spontaneous menstruation has been reported in people with Swyer syndrome. While people with Swyer syndrome typically have functional female genitalia and structures including a vagina, uterus and fallopian tubes, they typically do not have ovaries and are therefore infertile. For this reason, they ordinarily do not produce sex hormones and will not undergo puberty (including starting menstruation) unless treated with hormone replacement therapy. In most cases, Swyer syndrome is not diagnosed until the early teens because a girl with Swyer syndrome does not start her period (primary amenorrhea). However, there have been a few reports in the medical literature of girls with Swyer syndrome having spontaneous menstrual cycles.

It has been suggested that normal pubertal development (including spontaneous menstruation) in people with Swyer syndrome may be associated with the presence of a hormonally active tumor. It has been reported that both male and female sex steroids may be produced by gonadoblastoma and that gonadoblastoma is often the source of hormones in females with an 46,XY karyotype. Gonadoblastoma is a benign tumor but it has the potential for malignant transformation (turning cancerous). Having Swyer syndrome is a known risk factor for the development of this type of tumor. Spontaneous menstruation due to neoplastic estrogen secretion in general has also been reported.

Source: Genetic and Rare Diseases Information Center (GARD)

Is It Possible to Get Pregnant?

Pregnant Woman and Fetal Development, 0 months

Pregnant Woman and Fetal Development, 5 months

Pregnant Woman with Fetus at 9 Months lateral view

1

2

3

Pregnant Woman and Fetal Development, 0 months, 5 months, 9 Months

Interactive by TheVisualMD

Pregnant Woman and Fetal Development, 0 months

Pregnant Woman and Fetal Development, 5 months

Pregnant Woman with Fetus at 9 Months lateral view

1

2

3

Pregnant Woman and Fetal Development, 0 months, 5 months, 9 Months

Pregnant Woman and Fetal Development 1) 0 months 2) 5 months 9 Months A woman's body undergoes enormous changes during pregnancy. The heart and kidneys must work harder due to increased blood volume: cardiac output increases 30-50% during pregnancy. Heart rate increases to 80-90 beats per minute. The enlarged uterus, which reaches the lower edge of the rib cage by 36 weeks, compresses the bladder and intestines, making it necessary to urinate frequently and possibly causing constipation. The spine curves more to balance the weight of the growing uterus. The breasts enlarge and begin to produce colostrum in the final weeks of pregnancy.

Interactive by TheVisualMD

Is It Possible for a Patient with Swyer Syndrome to Get Pregnant?

Yes. Although women with Swyer syndrome are infertile, they may become pregnant and carry to term through egg donation and subsequent assisted reproductive technology (ART). Several successful pregnancies in women with Swyer syndrome have been described in the literature. Through hormone management, the uterus can achieve almost normal dimensions and is able to sustain pregnancy. However, it is still unclear whether the anatomic properties of the uterus would permit normal dilatation and labor. C-section has thus been the method of delivery in affected women. Based on reports, those with non-mosaic pure 46,XY gonadal dysgenesis do not appear to be at increased risk for adverse pregnancy outcomes other than those associated with C-section. However, additional reports of pregnancy outcomes in people with Swyer syndrome are needed to expand our knowledge and better define any specific risks.

Source: Genetic and Rare Diseases Information Center (GARD)

Additional Materials (3)

Assisted Reproductive Technology (ART) | Infertility

Video by Howcast/YouTube

Assisted Reproductive Technology

Video by inviTRA/YouTube

Intro to Assistive Technology from The Center on Technology and Disability

Video by Center on Technology and Disability (CTD)/YouTube

1:45

Assisted Reproductive Technology (ART) | Infertility

Howcast/YouTube

3:02

Assisted Reproductive Technology

inviTRA/YouTube

4:57

Intro to Assistive Technology from The Center on Technology and Disability

Center on Technology and Disability (CTD)/YouTube

Diagnosis

Human karyotype

Image by Doc. RNDr. Josef Reischig, CSc.

Human karyotype

Human karyotype (263 19) Karyotype Human 45,XY t1-17 (mosaic)

Image by Doc. RNDr. Josef Reischig, CSc.

How Is Swyer Syndrome Diagnosed?

Swyer syndrome is diagnosed based on the medical history, clinical examination, presence of characteristic features, chromosome results, and imaging studies such as a MRI or CT scan. Often people with this condition are not diagnosed until adolescence or adulthood due to delayed puberty, not having menstrual cycles, or infertility. In some cases, Swyer syndrome is diagnosed at birth based on a prenatal test and ultrasound findings.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (2)

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

Prenatal Blood Test

Prenatal Blood Test

Image by TheVisualMD

Prenatal Testing: What to Expect During a First Prenatal Visit

TheVisualMD

Prenatal Blood Test

TheVisualMD

Karyotype

Karyotype Test

Also called: Chromosome Analysis, Chromosome Karyotype, Chromosome Studies, Chromosome Testing, Karyotyping, Karyotype Genetic Test

A karyotype test is a type of genetic testing. It looks at the size, shape, and number of your chromosomes. Chromosomes are parts of cells that contain genes. If the number or structure of your chromosomes is not normal, it can indicate a genetic disease.

Karyotype Test

Also called: Chromosome Analysis, Chromosome Karyotype, Chromosome Studies, Chromosome Testing, Karyotyping, Karyotype Genetic Test

A karyotype test is a type of genetic testing. It looks at the size, shape, and number of your chromosomes. Chromosomes are parts of cells that contain genes. If the number or structure of your chromosomes is not normal, it can indicate a genetic disease.

{"label":"Karyotype Reference Range","scale":"lin","step":0.25,"hideunits":true,"items":[{"flag":"normal","label":{"short":"Normal","long":"Normal","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"A normal human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes). 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.","conditions":[]},{"flag":"abnormal","label":{"short":"Abnormal","long":"Abnormal","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"If you have more or fewer chromosomes than 46, or if there is anything unusual about the size or shape of your chromosomes, it can mean you have a\u00a0genetic disease. <br \/>\n<br \/>\nIf you were tested because you have a certain type of cancer or blood disorder, your results can show whether or not your condition is caused by a chromosomal defect.","conditions":["Chromosome abnormalities","Sex chromosome abnormalities","45,X\/46,XY mosaicism","47,XYY syndrome","48,XXXY syndrome","48,XXYY syndrome","49,XXXXY syndrome","Down syndrome (47,XX,+21 or 47,XY,+21)","Edwards syndrome (47,XX,+18 or 47,XY,+18)","Klinefelter syndrome (47,XXY)","Patau syndrome (47,XX,+13 or 47,XY,+13)","Turner syndrome (45,X)"]}],"value":0.5}[{"normal":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
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A normal human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes). 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
A karyotype test is a type of genetic testing. It looks at the size, shape, and number of chromosomes in a sample of cells from your body. Chromosomes are found in the cell nucleus, which is like the command center of a cell. Chromosomes contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works.
You inherit your chromosomes from your parents. Normally, all your cells (except for egg and sperm cells) have a set of the same 46 chromosomes. The chromosomes are grouped into 23 pairs. Each pair has two chromosomes, one coming from each parent. You may develop certain genetic disorders if your cells:
- Are missing whole chromosomes or pieces of chromosomes
- Have extra chromosomes or extra pieces of chromosomes
A karyotype test checks the chromosomes in your cells to:
- See whether you have a full set of 46 chromosomes. Having too many or too few chromosomes can cause serious problems with health, growth, and normal development, such as Down syndrome (extra chromosome 21) and Turner syndrome (missing X chromosome).
- Look for changes in the structure of chromosomes, such as broken, missing, or extra parts. These changes may cause a wide variety of problems depending on which chromosome is affected. But some changes in chromosomes don't cause problems.
Certain chromosome problems are present from birth. Chromosome problems can also develop in certain cells after birth. These problems can cause specific types of cancer.
Other names: genetic testing, chromosome testing, chromosome studies, cytogenetic analysis
A karyotype test looks for unusual changes in chromosomes. It may be used to:
- Check you and/or your family members for specific chromosome problems if you:
  Have a genetic disorder that runs in your family
  Have symptoms that may be from a genetic disorder
- Check an unborn baby for chromosome problems
- Find out if abnormal chromosomes are causing problems having children, including:
  Male or female infertility
  Miscarriages, if you have lost two or more pregnancies before 20 weeks
  Stillbirth
- Help diagnose and/or make treatment decisions for certain types of cancer and blood disorders
You may need a karyotype test if:
- You're planning to have children or are pregnant:
  To learn whether you and/or your partner have abnormal chromosomes that you could pass on to a baby
  To find out why you're having problems getting pregnant or having miscarriages
  To check your unborn baby for genetic disorders, especially if the baby has a high risk for problems. The risk may be high if:
  The pregnant parent is age 35 or older. The overall risk of genetic birth defects is small, but the risk increases after age 35.
  Either parent has a genetic disorder, a family history of a genetic disorder, or another child with a genetic disorder.
  The results of certain prenatal screening tests weren't normal.
- You have a family history of a chromosomal disorder and want to know your risk for developing the disorder.
- You and/or your child have symptoms of a genetic disorder. Each type of genetic disorder has different symptoms. Karyotype testing may be needed to make a diagnosis.
- You've been diagnosed with certain cancers or blood disorders that often involve changes in chromosomes. These changes can affect how your disease will behave and which treatment will work best for you. Karyotype testing may be needed to help diagnose and treat conditions such as:
  Leukemia
  Lymphoma
  Multiple myeloma
  Anemia
For a karyotype test, the type of sample you provide depends on the reason for the test.
To test the chromosomes of an unborn baby, the sample may be gathered using:
- Amniocentesis. This procedure collects a sample of the amniotic fluid that surrounds the unborn baby during pregnancy. The fluid contains cells from the baby that can be tested. Amniocentesis is usually done between week 15 and 20 of pregnancy.
- Chorionic villus sampling (CVS). This procedure collects tissue from the chorionic villi, which are parts of the placenta that usually have the same chromosomes as the unborn baby. (The placenta is the organ that grows in the uterus to provide nutrients and oxygen to the baby.) A CVS is usually done between week 10 and 13 of pregnancy.
To test the chromosomes of adults, children, and babies, the sample may be from:
- A blood test. This is the most common sample used for karyotype tests. A health care professional will use a small needle to remove a blood sample from a vein in your arm.
- A buccal (cheek) swab. A health care professional will insert a swab into your mouth and rub it across the inside of your cheek to gather a sample of cells.
- A bone marrow test. This test may be used if you have a certain type of cancer or blood disorder. Marrow is soft, spongy tissue found inside of bones. Most bone marrow samples are taken from the back of the hip bone.
1. Karyotype Genetic Test: MedlinePlus Lab Test Information [accessed on Nov 05, 2018]
2. https://labtestsonline.org/tests/chromosome-analysis-karyotyping [accessed on Nov 05, 2018]
3. 511035: Chromosome Analysis, Whole Blood (Constitutional) | LabCorp [accessed on Oct 03, 2018]
4. Chromosome Analysis, Blood (14596) [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 (1)

Chromosome Analysis - karyotyping

Video by Pathology Tests Explained/YouTube

2:36

Chromosome Analysis - karyotyping

Pathology Tests Explained/YouTube

Pelvic Exam

Pelvic Exam

Also called: Pelvic Examination, Gynecological Exam

A pelvic exam is a doctor's visual and physical examination of a woman's reproductive organs. The exam may be performed as part of a regular checkup or can be done to investigate symptoms such as abnormal bleeding, unusual vaginal discharge, or pain. Pelvic exams are also done during pregnancy check-ups.

Pelvic Exam

Also called: Pelvic Examination, Gynecological Exam

A pelvic exam is a doctor's visual and physical examination of a woman's reproductive organs. The exam may be performed as part of a regular checkup or can be done to investigate symptoms such as abnormal bleeding, unusual vaginal discharge, or pain. Pelvic exams are also done during pregnancy check-ups.

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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 the uterus and ovaries are normal in size and location. The uterus can be moved slightly without causing pain. The vulva, vagina, and cervix look normal with no signs of infection, inflammation, or other abnormalities.
Related conditions
1. Pelvic Exam. NCI's Dictionary of Cancer Terms [accessed on Oct 03, 2021]
2. Pelvic Exam: Preparation, Process, and More. Healthline. [accessed on Oct 03, 2021]
3. What Is a Pelvic Exam? | Questions About Gynecology Exams. Planned Parenthood. [accessed on Jan 15, 2022]
4. Pelvic Exam | Michigan Medicine [accessed on Jan 15, 2022]

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)

A cervical screening test - What can you expect?

Video by Healthchanneltv / cherishyourhealthtv/YouTube

How can I deal with the fear of getting a pelvic exam in the doctor's office?

Video by IntermountainMoms/YouTube

Dr. Doe's Pelvic Exam

Video by sexplanations/YouTube

Pelvic Exam Illustration

Line drawing showing pelvic exam procedure.

Image by National Cancer Institute / Unknown Illustrator

Pelvic Exam

Leopold maneuvers

Image by Christian Gerhard Leopold

Screening for Cancer

Common Screening Tests and American Cancer Society Recommendations Breast cancer Mammography: Women 40 and older should have a mammogram every year. Clinical breast exam (breast exam performed by a medical professional): Women age 20-40 should have one every 3 years. Women 40 and older should have one every year. Breast self-exam: Women age 20 and older should perform one each month (considered optional). If you have a family history of breast cancer, talk to your healthcare professional about what type of screening you should have, and how often.

Image by TheVisualMD

Sensitive content

This media may include sensitive content

Healthy Cervix

The cervix is the lower portion of the uterus where it joins with the top of the vagina. The opening of the the cervix into the vagina is called the external os, and can vary in appearance from a small, circular opening in women who have not given birth, to a wider, more slit-like opening in women who have had children. Human papillomavirus (HPV) is associated with an increased risk of cervical cancer. Women should be screened for cellular changes of the cervix with a pap smear as part of a regular pelvic exam. Human papillomavirus (HPV) is a large group of related viruses that are often sexually transmitted. Most infections clear up quickly and cause few problems, though HPV can cause genital warts. Infection by certain types of HPV, however, can lead to cervical cancer. In 2006, the FDA approved an HPV vaccine (Gardisil) that protects against viral types that cause most cases of cervical cancer as well as genital warts. Public health experts recommend routine vaccination for girls ages 11-12 to ensure vaccine effectiveness.

Image by TheVisualMD

Uterus and Ovaries in Ultrasound

Ovarian cancer is the deadliest of gynecologic cancers. More than 21,000 new cases of ovarian cancer are diagnosed each year, with more than 15,000 deaths; less than 20% of cases are found at an early stage, when treatment is most effective. When ovarian cancer is suspected, a doctor will typically perform a pelvic exam to check for masses or growths on the ovaries. Other diagnostic tests include a transvaginal ultrasound, which produce detailed images of the ovaries and other reproductive organs.

Image by TheVisualMD

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This media may include sensitive content

Pap Test: Pap Smear (Pap Test)

A Pap smear, also called a Pap test, is a procedure to test for cervical cancer as well as a number of different types of infections. The test involves collecting cells from the cervix. A speculum is inserted into the vagina, and samples of cervical cells are collected and examined under a microscope for abnormalities. Detecting cervical cancer early with a Pap smear gives women a greater chance of being cured. A Pap smear can also detect changes in cervical cells that suggest cancer may develop in the future. The Pap smear is usually done in conjunction with a pelvic exam. In women over 30, the Pap smear may be combined with a test for human papillomavirus (HPV), a common sexually transmitted infection that may cause cervical cancer in some women.

Image by TheVisualMD

Women's Health Checkup

Doctors Examining Pregnant Woman

Image by Israel Defense Forces

2:13

A cervical screening test - What can you expect?

Healthchanneltv / cherishyourhealthtv/YouTube

2:21

How can I deal with the fear of getting a pelvic exam in the doctor's office?

IntermountainMoms/YouTube

5:45

Dr. Doe's Pelvic Exam

sexplanations/YouTube

Pelvic Exam Illustration

National Cancer Institute / Unknown Illustrator

Pelvic Exam

Christian Gerhard Leopold

Screening for Cancer

TheVisualMD

Sensitive content

This media may include sensitive content

Healthy Cervix

TheVisualMD

Uterus and Ovaries in Ultrasound

TheVisualMD

Sensitive content

This media may include sensitive content

Pap Test: Pap Smear (Pap Test)

TheVisualMD

Women's Health Checkup

Israel Defense Forces

Pelvic Ultrasound

Pelvic Ultrasound - Female

Also called: Gynecological Scan, Gynecologic Ultrasound, Female Pelvic Scan, Female Pelvic Sonography, Transabdominal Female Pelvic Ultrasound, Transvaginal Ultrasound, Endovaginal Ultrasound

A female pelvic ultrasound is a test that uses an ultrasound machine to assess the size, shape, and location of the organs and tissues inside a woman’s pelvis, including the uterus, cervix, fallopian tubes, ovaries, vagina, and bladder.

Pelvic Ultrasound - Female

Also called: Gynecological Scan, Gynecologic Ultrasound, Female Pelvic Scan, Female Pelvic Sonography, Transabdominal Female Pelvic Ultrasound, Transvaginal Ultrasound, Endovaginal Ultrasound

A female pelvic ultrasound is a test that uses an ultrasound machine to assess the size, shape, and location of the organs and tissues inside a woman’s pelvis, including the uterus, cervix, fallopian tubes, ovaries, vagina, and bladder.

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Use the slider below to see how your results affect your health.
Your result is Normal.
This means that your uterus, ovaries, and bladder are of a normal shape and size, without any abnormal masses or tissues.
Related conditions
Your doctor may want to order a female pelvic ultrasound to diagnose and assist in the treatment of a wide variety of conditions, such as:
- Abnormalities in the structure of the uterus and endometrium (lining of the uterus)
- Abnormalities in the structure of the ovaries
- Growths such as fibroid tumors, cysts, and other types of tumors within the pelvis
- Pelvic inflammatory disease (PID, which is an infection of your uterus, fallopian tubes, or ovaries)
- Ectopic pregnancy (pregnancy that occurs outside of the uterus)
- Abnormal bleeding or pelvic pain
- Postmenopausal bleeding
- Find an intrauterine contraceptive device (IUD)
- As part of the work-up for infertility and assisted reproduction techniques
A normal result means that your uterus, ovaries, and bladder are of a normal shape and size, without any abnormal masses or tissues.
An abnormal result indicates that a problem was detected, including but not limited to:
- Fibroid tumors
- Cysts
- Ovarian torsion
- Pelvic masses
- Pelvic inflammatory disease
- Ectopic pregnancy
- Miscarriage
- Free liquid in the pelvic cavity
- Endometrial hyperplasia, which is a thickening of the endometrium
1. Pelvic Ultrasound: Purpose, Procedure, Risks, Results [accessed on Dec 27, 2018]
2. Pelvic Ultrasound [accessed on Dec 27, 2018]
3. Pelvic Ultrasound | Johns Hopkins Medicine Health Library [accessed on Dec 27, 2018]
4. Transvaginal Ultrasound: Purpose, Procedure, and Results [accessed on Dec 27, 2018]
5. Pelvic Ultrasound - StatPearls - NCBI Bookshelf [accessed on Dec 27, 2018]
6. HEM Ultrasound | Female Pelvic Ultrasound [accessed on Dec 27, 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 (1)

What to Expect From a Female Pelvic Ultrasound Exam

Video by RAYUS Radiology™/YouTube

2:19

What to Expect From a Female Pelvic Ultrasound Exam

RAYUS Radiology™/YouTube

Genetic Testing

Genetic Testing

Also called: DNA Testing, Mutation Screening, Genetic Test

Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

Genetic Testing

Also called: DNA Testing, Mutation Screening, Genetic Test

Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

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Use the slider below to see how your results affect your health.
Your result is Negative.
A negative (normal) result means that the test did not find a change that is known to affect health or development in the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic variant, or does not have an increased risk of developing a certain disease. It is possible, however, that the test missed a disease-causing genetic alteration because many tests cannot detect all genetic changes that can cause a particular disorder.
Related conditions
Genetic testing may be done for many different reasons, including to:
- Find genetic diseases in unborn babies. This is one type of prenatal testing.
- Screen newborn babies for certain treatable conditions
- Lower the risk of genetic diseases in embryos that were created using assisted reproductive technology
- Find out if you carry a gene for a certain disease that could be passed on to your children. This is called carrier testing.
- See whether you are at increased risk of developing a specific disease. This may be done for a disease that runs in your family.
- Diagnose certain diseases
- Identify genetic changes that may be causing or contributing to a disease that you were already diagnosed with
- Figure out how severe a disease is
- Help guide your doctor in deciding the best medicine and dosage for you. This is called pharmacogenomic testing.
There are no known risks to having a saliva test. There is very little risk to having 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.
The physical risks of the different types of genetic testing are small. But there can be emotional, social, or financial drawbacks:
- Depending on the results, you may feel angry, depressed, anxious, or guilty. This can be especially true if you are diagnosed with a disease that does not have effective treatments.
- You may be worried about genetic discrimination in employment or insurance
- Genetic testing may give you limited information about a genetic disease. For example, it cannot tell you whether you will have symptoms, how severe a disease might be, or whether a disease will get worse over time.
- Some genetic tests are expensive, and health insurance might only cover part of the cost. Or they may not cover it at all.
- Positive – the test found a genetic change known to cause disease.
- Negative – the test did not find a genetic change known to cause disease. Sometimes a negative result occurs when the wrong test was ordered or there isn’t a genetic cause for that person’s symptoms. A “true negative” is when there is a known genetic change in the family and the person tested did not inherit it. If your test results are negative and there is no known genetic change in your family, a negative test result may not give you a definite answer. This is because you might not have been tested for the genetic change that runs in your family.
- Uncertain – a variant of unknown or uncertain significance means there isn’t enough information about that genetic change to determine whether it is benign (normal) or pathogenic (disease causing).
1. Genetic Testing | CDC. Sep 23, 2022 [accessed on Feb 23, 2022]
2. Genetic Testing: MedlinePlus. National Library of Medicine. Jun 11, 2021 [accessed on Feb 23, 2022]
3. What is genetic testing?: MedlinePlus Genetics [accessed on Feb 23, 2022]
4. Genetic Testing FAQ. Genome.gov [accessed on Feb 23, 2022]
5. Genetic testing and your cancer risk: MedlinePlus Medical Encyclopedia [accessed on Feb 23, 2022]

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 (21)

Genetic testing

Genetic testing fact sheet

Image by genome.gov

Genetic testing

Genetic testing existed before the Human Genome Project and the list of diseases that we can already screen for may be longer than you think.

Image 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

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

genetic analysis

Biotechnology - DNA analysis and treatment

Image by OpenClipart-Vectors/Pixabay

Family history (medicine)

An extended family in Spain

Image by Ojedamd

Biotechnology

This diagram shows the basic method used for extraction of DNA.

Image by CNX Openstax

Genetic Counselor at Sanford Health Explains the Benefits to Genetic Testing

Video by Sanford Health/YouTube

What Is A Genetic Counselor & The Importance of Genetic Counselling | Ambry Genetics

Video by Ambry Genetics/YouTube

How Does The Genetic Testing Process Work? Genetic Testing FAQ | Ambry Genetics

Video by Ambry Genetics/YouTube

Should You Get Genetic Testing During Your Pregnancy?

Video by St. Louis Children's Hospital/YouTube

Debating Embryonic Genetic Testing -- The Doctors

Video by The Doctors/YouTube

Genetic Testing for Cancer — AMITA Health | NBC Chicago Ask the Doc

Video by AMITA Health/YouTube

MedGenome BRCA - Breast Cancer Genetic Testing

Video by MedGenome/YouTube

Genetic Testing for Hereditary Forms of Kidney Cancer - Brian Shuch, MD

Video by UCLA Health/YouTube

Do I need Genetic Testing for Ichthyosis?

Video by foundation for ichthyosis/YouTube

What Is Genetic Testing? Understanding the Process and Its Results

Video by uvahealth/YouTube

How to Understand Your Genetic Testing Results

Video by Breast Cancer Answers®/YouTube

Genetic Testing 101 for People with Rare Diseases

Video by National Organization for Rare Disorders (NORD)/YouTube

What's the difference between genetic and genomic testing?

Video by Cancer Treatment Centers of America - CTCA/YouTube

Genetic testing

genome.gov

Genetic testing

TheVisualMD

Genes and Genetic Defects

TheVisualMD

Mapping Your Future: Screening for Disease Risk

TheVisualMD

Each person with Down syndrome has different talents and the ability to thrive.

CDC

genetic analysis

OpenClipart-Vectors/Pixabay

Family history (medicine)

Ojedamd

Biotechnology

CNX Openstax

1:57

Genetic Counselor at Sanford Health Explains the Benefits to Genetic Testing

Sanford Health/YouTube

1:06

What Is A Genetic Counselor & The Importance of Genetic Counselling | Ambry Genetics

Ambry Genetics/YouTube

0:45

How Does The Genetic Testing Process Work? Genetic Testing FAQ | Ambry Genetics

Ambry Genetics/YouTube

3:04

Should You Get Genetic Testing During Your Pregnancy?

St. Louis Children's Hospital/YouTube

4:40

Debating Embryonic Genetic Testing -- The Doctors

The Doctors/YouTube

1:31

Genetic Testing for Cancer — AMITA Health | NBC Chicago Ask the Doc

AMITA Health/YouTube

2:10

MedGenome BRCA - Breast Cancer Genetic Testing

MedGenome/YouTube

1:37

Genetic Testing for Hereditary Forms of Kidney Cancer - Brian Shuch, MD

UCLA Health/YouTube

1:43

Do I need Genetic Testing for Ichthyosis?

foundation for ichthyosis/YouTube

2:01

What Is Genetic Testing? Understanding the Process and Its Results

uvahealth/YouTube

3:58

How to Understand Your Genetic Testing Results

Breast Cancer Answers®/YouTube

1:00:31

Genetic Testing 101 for People with Rare Diseases

National Organization for Rare Disorders (NORD)/YouTube

2:05

What's the difference between genetic and genomic testing?

Cancer Treatment Centers of America - CTCA/YouTube

Prenatal Screening

Prenatal Cell-Free DNA Screening

Also called: Cell-Free Fetal DNA, cffDNA, cfDNA Screening, Non-Invasive Prenatal Test, NIPT, Non-Invasive Prenatal Screening, NIPS

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.

Prenatal Cell-Free DNA Screening

Also called: Cell-Free Fetal DNA, cffDNA, cfDNA Screening, Non-Invasive Prenatal Test, NIPT, Non-Invasive Prenatal Screening, NIPS

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.
Other names: cell-free fetal DNA, cffDNA, non-invasive prenatal test, NIPT, non-invasive prenatal screening, NIPS
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.
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.
1. Cell-Free Fetal DNA. Lab Tests Online. [accessed on Nov 08, 2018]
2. 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]
3. Prenatal cell-free DNA screening - Mayo Clinic [accessed on Nov 08, 2018]
4. 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

Treatment

Hormone Replacement Therapy Intra Vaginal Cream

Image by TheVisualMD

Hormone Replacement Therapy Intra Vaginal Cream

Hormone Replacement Therapy Intra Vaginal Cream

Image by TheVisualMD

How Might Swyer Syndrome Be Treated?

The treatment of a person with Swyer syndrome may depend on the specific characteristics that each person has. Some people need surgery to repair the external genitalia and to create and/or enlarge the vagina. Hormone replacement therapy (HRT) is typically needed from puberty onward and usually includes estrogen and progesterone. In addition to helping with normal development of secondary sexual characteristics, HRT can help prevent bone loss and thinning (osteoporosis) later in life. Abdominal dysgenetic gonads (testes or ovaries with abnormal development) or streak gonads, which are common in people with Swyer syndrome, are at increased risk for gonadal tumors such as gonadoblastoma and should be surgically removed. Although women with Swyer syndrome are infertile, they may become pregnant and carry to term through egg donation.

Treatment for Swyer syndrome includes surgery to remove undeveloped gonads (streak gonads) and hormone replacement therapy during adolescence. Streak gonads are removed as soon as possible because of the risk of them becoming cancerous. Women with Swyer syndrome are infertile, but pregnancy is possible through egg donation and artificial reproductive technologies.

Specialists who might be involved in the care of someone with Swyer syndrome include:

Endocrinologist (specialist in hormones)
Gynecologist
Psychologist

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (2)

The Reproductive System: How Gonads Go - CrashCourse Biology #34

Video by CrashCourse/YouTube

Feminizing Hormone Therapy at Seattle Children’s

Video by Seattle Children's/YouTube

12:02

The Reproductive System: How Gonads Go - CrashCourse Biology #34

CrashCourse/YouTube

3:13

Feminizing Hormone Therapy at Seattle Children’s

Seattle Children's/YouTube

Should Streak Gonads Be Removed?

Surgery

Image by Staff Sgt. Miguel Lara/Wikimedia

Surgery

U.S. Air Force Maj Jonathan Forbes, 455th Expeditionary Medical Operations Squadron neurosurgeon looks through loupes as he performs brain surgery at the Craig Joint Theater Hospital, Bagram Air Field, Afghanistan, Oct. 10, 2014. The loupes allow Forbes to see the surgery at a two times magnification. Forbes removed an 8-centimeter tumor during the five-hour surgery. Forbes is deployed from Travis Air Force Base, Calif., and is a native of New Martinsville, W.Va. (U.S. Air Force photo by Staff Sgt. Miguel Lara III/Released) Unit: 455th Air Expeditionary Wing

Image by Staff Sgt. Miguel Lara/Wikimedia

Should Streak Gonads Be Removed in Individuals with Swyer Syndrome?

It is typically recommended that individuals with streak gonads have them surgically removed. Individuals with streak gonads are at an increased risk for gonadal tumors.

Source: Genetic and Rare Diseases Information Center (GARD)

Statistics

Illustration of rare disease incidence

Image by mcmurryjulie/Pixabay

Illustration of rare disease incidence

Image by mcmurryjulie/Pixabay

How Common Is Swyer Syndrome?

Swyer syndrome occurs in approximately 1 in 80,000 people.

Source: MedlinePlus Genetics

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Swyer Syndrome

Swyer syndrome is a rare genetic condition affecting sexual organ development. People with Swyer syndrome have one X chromosome and one Y chromosome, normally present in males, but are born with female external genitalia. Read about the symptoms and features of someone with this condition, and possible therapeutic options to treat associated issues.

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