Trisomy 21 (Down syndrome)

Down syndrome is the most common chromosomal condition not involving the X or Y chromosomes. It occurs in about 1 in 800 births and is associated with differences in physical and intellectual development that can be mild to severe.1 While women of any age can have a child with Down syndrome, the likelihood increases with mother’s age.1

For more detailed information about Down syndrome including pregnancy management, health care guidelines, advocacy and support for families:

National Down Syndrome Congress

NIH Genetics Home Reference

Lettercase

National Association for Down Syndrome

National Down Syndrome Society

Learn more about the Harmony prenatal test for Trisomy 21.


References

  1. U.S. National Library of Medicine. Genetics Home Reference. Down Syndrome. https://ghr.nlm.nih.gov/condition/down-syndrome. Accessed April 25, 2018.

Trisomy 18

Trisomy 18 happens in about 1 in 5,000 live births.1 It occurs when cells have an extra copy of chromosome 18 and is typically not inherited. People with trisomy 18 have serious differences in physical and cognitive development. Although women of any age can have a child with trisomy 18, the likelihood increases with mother’s age.For more detailed information about trisomy 18, including pregnancy management, health care guidelines, advocacy and support for families:

Chromosome 18 Registry and Research Society

Trisomy 18 Foundation

SOFT (Support Organization for Trisomy 18, 13 and other Related Disorders)

NIH Genetics Home Reference

Learn more about the Harmony prenatal test for Trisomy 18.


References

  1. U.S. National Library of Medicine. Genetics Home Reference. Trisomy 18. https://ghr.nlm.nih.gov/condition/trisomy-18. Accessed April 25, 2018. 

Trisomy 13

Trisomy 13 happens in about 1 in 16,000 live births.1 It occurs when cells have an extra copy of chromosome 13, and is typically not inherited. People with trisomy 13 have serious differences in physical and cognitive development. Although women of any age can have a child with trisomy 13, the likelihood increases with mother’s age.

 

For more detailed information about trisomy 13, including pregnancy management, health care guidelines, advocacy and support for families:

SOFT (Support Organization for Trisomy 18, 13 and other Related Disorders)

NIH Genetics Home Reference

Learn more about the Harmony prenatal test for Trisomy 13.


References

  1. U.S. National Library of Medicine. Genetics Home Reference. Trisomy 13. https://ghr.nlm.nih.gov/condition/trisomy-13. Accessed April 25, 2018.

Down syndrome (Trisomy 21)

Down syndrome is the most common chromosomal condition not involving the X or Y chromosomes.

It is a genetic condition in which a person is born with an extra chromosome 21. Down syndrome usually causes delays in physical, intellectual, and language development that can be mild to severe. While women of any age can have a child with Down syndrome, the likelihood increases with mother’s age.

For more detailed information about Down syndrome including pregnancy management, health care guidelines, advocacy and support for families:

National Down Syndrome Congress

NIH Genetics Home Reference

Lettercase

National Association for Down Syndrome

National Down Syndrome Society

 

Edward syndrome (Trisomy 18)

Edward syndrome occurs when cells have an extra copy of chromosome 18 and is typically not inherited. Trisomy 18 causes serious medical problems which can be life-threatening, even before birth. Although women of any age can have a child with trisomy 18, the likelihood increases with mother’s age.2

For more detailed information about trisomy 18, including pregnancy management, health care guidelines, advocacy and support for families:

Chromosome 18 Registry and Research Society

Trisomy 18 Foundation

SOFT (Support Organization for Trisomy 18, 13 and other Related Disorders)

NIH Genetics Home Reference

Patau syndrome (Trisomy 13)

Patau syndrome is caused by an extra chromosome 13. Trisomy 13 is a condition that causes serious birth defects and significant developmental delays which can be life-threatening. Although women of any age can have a child with trisomy 13, the likelihood increases with mother’s age.

For more detailed information about trisomy 13, including pregnancy management, health care guidelines, advocacy and support for families:

SOFT (Support Organization for Trisomy 18, 13 and other Related Disorders)

NIH Genetics Home Reference

1. U.S. National Library of Medicine. Genetics Home Reference. Down Syndrome. https://ghr.nlm.nih.gov/condition/down-syndrome. Accessed April 25, 2018.

The Harmony Prenatal Test measures a woman’s risk of carrying a baby with chromosomal conditions such as trisomies 21, 18 and 13. If your test indicates a high-risk result, talk with your healthcare provider about what further diagnostic testing is needed to confirm the result. The Harmony Prenatal Test was developed by Ariosa Diagnostics, a laboratory certified by the federal government to perform high complexity testing. This test is a laboratory–developed test and has not been reviewed or approved by the FDA.

Sex Chromosome Aneuploidies (SCA)

Most people have either two X chromosomes or one X and one Y chromosome in their cells. People with a sex chromosome aneuploidy (SCA) have a different number of X and/or Y chromosomes. The Harmony prenatal test looks for SCAs such as:

  • Turner syndrome (Monosomy X)
  • Klinefelter syndrome (XXY)

People with SCAs can have birth defects, infertility and learning differences. Some people with an SCA have such subtle features that the condition isn’t identified until after childhood.

Turner syndrome (Monosomy X)

Monosomy X is a condition affecting females in which there is a missing or damaged X chromosome. Individuals usually have endocrine (hormone) issues, heart defects and infertility.

For more detailed information about Monosomy X, including pregnancy management, health care guidelines, advocacy and support for families:

National Organization for Rare Disorders

Turner Syndrome Foundation

Turner Syndrome Society of the United States

 

Klinefelter syndrome (XXY)

Klinefelter syndrome is a condition affecting males in which there is an extra sex chromosome (two X chromosomes and one Y chromosome). Features are variable and often subtle, and largely involve the endocrine (hormone) system.

For more detailed information about XXY, including pregnancy management, health care guidelines, advocacy and support for families:

National Organization for Rare Disorders

AXYS

1. U.S. National Library of Medicine. Genetics Home Reference. Turner Syndrome. https://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed December 17, 2018. 2.  U.S. National Library of Medicine. Genetics Home Reference. Klinefelter Syndrome. https://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed December 17, 2018.

The Harmony Prenatal Test measures a woman’s risk of carrying a baby with chromosomal conditions such as trisomies 21, 18 and 13. If your test indicates a high-risk result, talk with your healthcare provider about what further diagnostic testing is needed to confirm the result. The Harmony Prenatal Test was developed by Ariosa Diagnostics, a laboratory certified by the federal government to perform high complexity testing. This test is a laboratory–developed test and has not been reviewed or approved by the FDA.

22q11.2 Microdeletion

A microdeletion is the absence of a small piece of chromosome and is named by the area of the chromosome that is absent. The Harmony prenatal test looks for 22q11.2 microdeletion, the most common genetic cause of intellectual disability and heart defects after Down syndrome.3 While it can be inherited from a parent, most babies with 22q11.2 microdeletion are the first in their family to be diagnosed.4 Some people with 22q11.2 microdeletion have very subtle features that are not noticed until after childhood, while others have birth defects that are seen during a prenatal ultrasound.5,6 22q11.2 microdeletion is the cause of genetic syndromes such as velocardiofacial syndrome and DiGeorge syndrome.

For more detailed information about 22q11.2 microdeletion including pregnancy management, health care guidelines, advocacy and support for families:

The International 22q11.2 Foundation Inc

NIH Genetics Home Reference

1. U.S. National Library of Medicine. Genetics Home Reference. Accessed April 25, 2018 2. The Public Use Natality File – 2015 Update. Retrieved from ftp://ftp.cdc.gov/pub/Health_Statistics/NCHS/Dataset_Documentation/DVS/natality/UserGuide2015.pdf Accessed on 12/23/16. 3. Rauch et al. Am J Med Genet A. 2006 Oct 1;140(19):2063-74. 4. McDonald-McGinn et al. Genet Med. 2001 Jan-Feb;3(1):23-9. 5. McDonald-McGinn et al. Genet Couns. 1999;10(1):11-24. 6. Bassett et al. J Pediatr. 2011 Aug;159(2):332-9.

The Harmony Prenatal Test measures a woman’s risk of carrying a baby with chromosomal conditions such as trisomies 21, 18 and 13. If your test indicates a high-risk result, talk with your healthcare provider about what further diagnostic testing is needed to confirm the result. The Harmony Prenatal Test was developed by Ariosa Diagnostics, a laboratory certified by the federal government to perform high complexity testing. This test is a laboratory–developed test and has not been reviewed or approved by the FDA.

The Harmony Prenatal Test measures a woman’s risk of carrying a baby with chromosomal conditions such as trisomies 21, 18 and 13. If your test indicates a high-risk result, talk with your healthcare provider about what further diagnostic testing is needed to confirm the result. The Harmony Prenatal Test was developed by Ariosa Diagnostics, a laboratory certified by the federal government to perform high complexity testing. This test is a laboratory–developed test and has not been reviewed or approved by the FDA.