For Expecting Parents

Find out more about the Harmony Prenatal Test through brochures and videos and find support and advocacy groups for Down syndrome and other chromosomal conditions.

Ask your healthcare provider

As part of your care during pregnancy, your healthcare provider will give you the option to test for Down syndrome, a genetic condition that affects physical and mental development.
Harmony test is a DNA-based test that predicts the risk of Down syndrome (trisomy 21) and two other genetic conditions trisomy 18  and trisomy 13 in your pregnancy. 

At your next appointment, your healthcare provider can determine if Harmony is right for you and answer questions you may have such as:

●      What can I learn from the Harmony test?

●      How does the Harmony test differ from other Down syndrome tests?

●      Do you offer the Harmony test in your office or through a laboratory?

●      How can I find out how much does the Harmony test costs?

●      When and how will you notify me of the Harmony test result?

 

Harmony Brochure for Expecting Parents

An overview of the Harmony Prenatal Test: what it is, how it differs from other tests, what to expect when taking this simple blood test, and questions to ask your healthcare provider.

Read more about the Harmony Prenatal Test, how it differs from traditional Down syndrome blood tests, offering greater clarity earlier in pregnancy.
Discover why experts support testing for Down syndrome, and print or view questions to ask your healthcare provider. 

Read Brochure

Support and advocacy groups

Find links to organizations that offer information and resources for both expecting parents and healthcare providers on genetic conditions and trisomy testing.

Information about trisomies and other genetic conditions

Many organizations offer education on genetic conditions such as Down syndrome and support to affected families. See below for a brief description of the genetic conditions that Harmony tests for and links to support and advocacy group websites. 


Down syndrome (trisomy 21)

Down syndrome is the most common chromosome condition, occurring in about 1 in 700 births*. Down syndrome affects physical and intellectual development and may shorten lifespan. Down syndrome is a genetic condition that happens when an extra chromosome (chromosome 21) originates in the formation of either the sperm or the egg called “trisomy”.*  Even though Down syndrome is “genetic”, it is not typically an inherited condition.  

https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

NIH Genetics Home Reference
https://ghr.nlm.nih.gov/condition/down-syndrome

Lettercase
http://lettercase.org/

National Association for Down Syndrome
https://nads.org/

National Down Syndrome Congress
http://www.ndsccenter.org/

National Down Syndrome Society
http://www.ndss.org/


Trisomy 18

Trisomy 18 is associated with a high rate of miscarriage. Infants born with trisomy 18 syndrome may have various medical conditions and a shortened lifespan. It is estimated that trisomy 18 syndrome is present in approximately one out of every 5,000 newborns.1 Trisomy 18 is due to an extra copy of chromosome 18.  Even though trisomy 18 is “genetic”, it is not typically an inherited condition.

NIH: Genetics Home Reference
https://ghr.nlm.nih.gov/condition/trisomy-18

Chromosome 18 Registry and Research Society
www.chromosome18.org

Trisomy 18 Foundation
www.trisomy18.org


Trisomy 13

Trisomy 13 is associated with a high rate of miscarriage. Infants born with trisomy 13 usually have severe congenital heart defects and other medical conditions. Survival beyond the first year is rare. It is estimated that trisomy 13 is present in approximately 1 out of every 16,000 newborns.** Trisomy 13 is due to an extra chromosome 13. Even though trisomy 13 is “genetic”, it is not typically an inherited condition.

NIH: Genetics Home Reference
**https://ghr.nlm.nih.gov/condition/trisomy-13

SOFT (Support for Trisomy 13/18)
www.trisomy.org


Sex Chromosome Aneuploidies

Turner syndrome, in which one X chromosome is present instead of two, affects 1 in 2,000 girls. Klinefelter syndrome, in which an extra X chromosome is present, affects 1 in 500-1000 boys. Other X and Y chromosome-related conditions affect as many as 1 in 650 newborns.  The features of these conditions are variable.

The Turner Syndrome Society of the United States
turnersyndrome.org

AXYS
genetic.org

The Focus Foundation
thefocusfoundation.org

These links are provided solely as a resource to the reader. Roche is not affiliated with, nor endorses any of the listed organizations and hereby disclaims any responsibility or liability for any of the content or advice provided by any such organizations.

1"American Pregnancy Association." American Pregnancy Association. American Pregnancy Association, n.d. Web. 12 Oct. 2012. www.americanpregnancy.org/main/statistics.html