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.

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.

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 test looks for SCAs such as:

  • Monosomy X (a cause of Turner syndrome)
  • XXY (a cause of Klinefelter syndrome)
  • XXX
  • XYY
  • XXYY

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.

Monosomy X (a cause of Turner syndrome)

Monosomy X is a condition in which a female has one X chromosome and no second sex chromosome. It occurs in about 1/2500 births1 and is not typically inherited. Features are variable and can include endocrine (hormone) issues, heart defects and infertility. 1

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

https://rarediseases.org/rare-diseases/turner-syndrome

https://turnersyndromefoundation.org

https://www.turnersyndrome.org

 

XXY (a cause of Klinefelter syndrome)

XXY is a condition in which a male has two X chromosomes and one Y chromosome. It occurs in 1 in 500 to 1 in 1000 births2 and is typically not inherited. Features are variable and often subtle, and largely involve the endocrine (hormone) system.2

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

https://rarediseases.org/rare-diseases/klinefelter-syndrome

https://genetic.org/variations/about-47xxy

 

 

References

  1. U.S. National Library of Medicine. Genetics Home Reference. Turner Syndrome. https://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed April 25, 2018.
  2. U.S. National Library of Medicine. Genetics Home Reference. Klinefelter Syndrome. https://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed April 25, 2018.

22q11.2 microdeletion (the cause of 22q deletion syndrome)

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 test looks for 22q11.2 microdeletion, the most common genetic cause of intellectual disability and heart defects after Down syndrome.1 While it can be inherited from a parent, most babies with 22q11.2 microdeletion are the first in their family to be diagnosed.2 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.3,4 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:

www.22q.org

https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome

Learn more about the Harmony prenatal test for 22q11.2 microdeletion.

 

References

  1. Rauch et al. Am J Med Genet A. 2006 Oct 1;140(19):2063-74.
  2. McDonald-McGinn et al. Genet Med. 2001 Jan-Feb;3(1):23-9.
  3. McDonald-McGinn et al. Genet Couns. 1999;10(1):11-24.
  4. Bassett et al. J Pediatr. 2011 Aug;159(2):332-9.

References

  1. Rauch et al. Am J Med Genet A 2006;140:2063-2074.
  2. Schmid et al. Fetal Diagn Ther 2017; doi: 10.1159/000484317.

The Harmony Prenatal Test is a non-invasive prenatal test (NIPT) based on cell-free DNA analysis and is considered a prenatal screening test, not a diagnostic test. Harmony does not screen for potential chromosomal or genetic conditions other than those expressly identified here. All women should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate. The Harmony Prenatal Test was developed, and its performance characteristics determined by Ariosa Diagnostics, Inc., a CLIA-certified and CAP-accredited clinical laboratory in San Jose, CA USA. This testing service has not been cleared or approved by the US FDA.

HARMONY is a trademark of Roche. All other product names and trademarks are the property of their respective owners.

 

NOTICE OF PATIENT PRIVACY PRACTICES

Terms & Conditions | Privacy Policy