For Expecting Parents

A proven DNA-based technology

When you are pregnant, your blood contains fragments of your baby’s DNA. 

The Harmony Prenatal Test analyzes DNA in a sample of your blood to predict the risk of Down syndrome (trisomy 21) and certain other chromosomal conditions.

Learn more about Harmony DNA-testing technology

As early as 10 weeks

The Harmony Prenatal Test requires a single blood draw. It can be done as early as 10 weeks or later in pregnancy. Other screening tests for Down syndrome are performed later in pregnancy and may require multiple office visits.

Learn more about what to expect with Harmony Prenatal Test

A more accurate screening test

The Harmony Prenatal Test is a screening test that is more accurate than traditional screening tests for Down syndrome.1 Non-invasive prenatal testing based on cell-free DNA analysis is not considered diagnostic. Once you have your Harmony test results, you can discuss your pregnancy care with your healthcare provider.The Harmony test is much less likely to give a false-positive result compared to traditional tests such as the first trimester screening test.That means there will be much less chance your doctor would recommend follow-up diagnostic testing, such as amniocentesis.2

This test evaluates two other chromosome conditions: trisomy 18 and trisomy 13. In addition, with the Harmony test you have the option to test for sex chromosome conditions, 22q11.2 deletion and find out fetal sex all in the same blood draw. 

Learn more about the Harmony Prenatal Test


Data Source: Norton et al. N Engl J Med. 2015 Apr 23;372(17):1589-97
*Pregnancy unaffected with Down syndrome receives high probability result
**Pregnancy affected with Down syndrome receives high probability result
***Serum Papp-A, total or free B-hCG & Nuchal Translucency

Call toll free: 1855-9-ARIOSA (855-927-4672)

Get Harmony Support

References

1. Norton et al. N Engl J Med. 2015 Apr 23;372(17):1589-97

2. Wax et al. J Clin Ultrasound 2015 Jan; 43(1):1-6.

Three steps to clear answers

While other commonly used tests for Down syndrome are performed later in pregnancy and require multiple office visits2, Harmony test delivers clear answers as early as the first trimester with a single blood draw.

1.       A maternal blood sample is taken at week ten of pregnancy, or later.

2.       DNA in the sample is analyzed using proprietary Harmony technology.

3.       In most cases, the test results are reported to your provider in 7 business days or less.

   

Receiving your test results

The Harmony Prenatal Test gives clear answers to questions about the chance for your baby to have trisomies 21 (Down syndrome), 18 or 13.

Once the analysis is completed, your provider receives the results and shares them with you.

If you also selected analysis of fetal sex, X and Y chromosomes,  and 22q11.2 deletion, those results are provided as well.

Reduce the need for additional testing

The Harmony Prenatal Test is more accurate than traditional screening tests for Down syndrome.1

With the Harmony test, there is less chance your doctor will recommend follow-up diagnostic testing, such as amniocentesis, due to a false positive result.

Download the Harmony brochure

 

References

1. Norton et al. N Engl J Med. 2015 Apr 23;372(17):1589-97

2. ACOG Practice Bulletin 163. ACOG Committee on Practice Bulletins. Obstet Gynecol. 2016 May;127(5):e123-37.

The Harmony Prenatal Test Analyzes DNA

During pregnancy, the mother's blood contains fragments of the developing baby’s DNA. The Harmony test analyzes this DNA in a blood sample to assess the chance for Down syndrome (trisomy 21), as well as trisomies 18 and 13, in the pregnancy.

 

A targeted approach

While traditional blood tests can miss as many as 20% of pregnancies with Down syndrome1, the Harmony test is a DNA-based technology that accurately identifies more than 99% of cases.1The Harmony Prenatal Test specifically targets the DNA in chromosomes 21, 18 and 13- the most common trisomies that occur in babies born to women of any age when no other known risk factors are known.4

Excellent quality control

The Harmony Prenatal Test incorporates extensive quality controls. These controls include measurement of the amount of the developing baby’s DNA in each sample, to ensure that there is enough DNA present to return a reliable result. While it may seem surprising, not all DNA-based genetic tests take the care to measure this important information.

Questions to ask your doctor about Harmony Prenatal Test

References

1. Norton et al. N Engl J Med. 2015 Apr 23;372(17):1589-97

2. ACOG Practice Bulletin 163. ACOG Committee on Practice Bulletins. Obstet Gynecol. 2016 May;127(5):e123-37.

3. Sparks et al. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9.

4. Grati FR et al. Am J Med Genet Part A 152A:1434–1442.

Using a DNA-based technology, the Harmony Prenatal Test has been shown to identify more than 99% of pregnancies with Down syndrome.1 By comparison, traditional blood tests can miss as many as 15% of pregnancies with Down syndrome.2

The Harmony test is also much less likely than traditional tests to give you a false-positive result, meaning there is much less chance your doctor would recommend follow-up invasive testing like amniocentesis.

The Harmony Prenatal Test is a screening test. Results should be confirmed with diagnostic testing such as amniocentesis. 

Read more about the accuracy of the Harmony Prenatal Test.

When you are pregnant, your blood contains pieces of DNA from your developing baby. The Harmony Prenatal Test is a test that analyzes DNA in a sample of your blood to assess the chance of Down syndrome (trisomy 21) and other chromosome conditions called trisomy 18 and trisomy 13.

Read more about the Technology behind the Harmony Prenatal Test

The Harmony test delivers clear answers as early as the first trimester with a single blood draw. Other screening tests for Down syndrome are performed later in pregnancy and require multiple office visits. Traditional 1st trimester serum screening tests are associated with a false-positive rate as high as 5%.2 
The Harmony test uses a unique method of targeted DNA analysis that, combined with extensive quality controls, achieves over 99% accuracy and a false-positive rate less than 0.1%.1

Yes, the Harmony Prenatal Test includes the option to evaluate fetal sex and the number of X and Y sex chromosomes, if you ask your doctor to request this additional analysis. 

Yes, the Harmony Prenatal Test now has the option to evaluate for the microdeletion syndrome called 22q11.2.

Yes. Recent professional society guidelines support the offering of non-invasive prenatal testing to the general population.3-4 The Harmony Prenatal Test has been extensively validated in women both over and under 35.Most babies with Down syndrome are born to women who are less than 35 years old, even though the risk of Down syndrome in a pregnancy increases with a woman’s age.5

As early as 10 weeks into your pregnancy, you can take the Harmony Prenatal Test with a simple blood draw. 

In seven days or less, your healthcare provider will receive the results and can share them with you.

 

Read more about Taking the Test

In the Resources section, you will find a list of Advocacy and Support Groups with links to organizations that support families and individuals affected by trisomies and provide information about these conditions to the public.

Yes. Harmony can be used in twin pregnancies.

Yes. In most cases, the Harmony Prenatal Test can be used in pregnancies conceived through in vitro fertilization (IVF).

For questions that relate to your specific case and personal concerns, it’s best to talk to your healthcare provider. A list of Questions for your healthcare provider you can print for your next visit is available.

References 

1. Norton et al. N Engl J Med. 2015 Apr 23;372(17):1589-97

2. ACOG Practice Bulletin 163. ACOG Committee on Practice Bulletins. Obstet Gynecol. 2007 Jan;109(1):217-27

3. Benn et al. Prenat Diagn. 2015 Aug;35(8):725-34.

4. Gregg et al. Genet Med. 2016 Oct;18(10):1056-65.

5. California Prenatal Screening Program 2009

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

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 rare genetic condition that affects physical and mental development.

Harmony is a new DNA-based test that evaluates 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 the Harmony Prenatal Test is right for you and answer questions you may have such as:

  • What can I learn from the Harmony test?
  • How does Harmony 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 the Harmony test costs?
  • When and how will you notify me of the Harmony test result?