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Clinician FAQs

Doctor talking to a pregnant mother

Questions and answers

Find answers to your questions. We are here to provide all the information you need.

A: The Harmony test is a non-invasive, cell-free DNA-based blood screening test that assesses the probability of fetal trisomy 21 (Down Syndrome), 18, and 13 in women of any age or risk factors†. Harmony has a detection rate of greater than 99% and a false-positive rate of less than 0.1% for trisomy 21 (Down Syndrome).1,2

The Harmony test can be performed as early as 10 weeks’ gestation, and results are received in as soon as 3 days, most in 5 days after sample receipt.

Harmony uses a directed (targeted) approach, analyzing only the chromosomes of interest.

 

† Both under 35 and over 35 age groups, studies have included women ages 18-48

References

  1. Norton et al. New England J of Medicine. 2015; 372(17):1589-1597.
  2. Stokowski et al. Prenatal Diagn. 2015: DOI: 10.1002/pd.4686.

A: Yes. Harmony includes the option of testing for sex chromosome aneuploidies (monosomy X, XXX, XXY, XYY, and XXYY) and 22q11.2 deletion. 

A: Following confirmation of a pregnancy, order the Harmony test as early as 10 weeks gestational age. Your office or practice laboratory can collect a simple blood specimen and send it to an approved laboratory. Collection and transportation kits are available. You will receive a report detailing test results from your laboratory. The Harmony test can be used in conjunction with NT ultrasound. Patient education is similar to that required for conventional trisomy screening tests.

Fill out the contact form on our Get Started page.

A: Yes. The Harmony prenatal test is validated for pregnant women of any age or risk categories, including both under 35 and over 35 age groups (studies have included women ages 18-48). In fact, a landmark study published in the New England Journal of Medicine showed that Harmony significantly outperformed first trimester screening in both trisomy 21 detection rate and false-positive rate.1,2

The Harmony test is validated for singleton, twin, and IVF pregnancies (including self and non-self egg donor pregnancies).3

 

View our list of studies

 

References

  1. Norton et al. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8.
  2. Stokowski et al. Prenatal Diagn. 2015: DOI: 10.1002/pd.4686.
  3. Gil et al. Fetal Diagn Ther. 2014;35:204-11.

A: The false-positive rate for the Harmony test was less than 0.1% in blinded prospective studies of over 22,000 pregnant women ages 18-48.1,2 False-positive rates for most conventional screening tests are generally around 5%.3

Read more about the accuracy of the Harmony test versus other first trimester screening methods.

 

References

  1. Norton et al. New England J of Medicine. 2015; 372(17):1589-1597.
  2. Stokowski et al. Prenatal Diagn. 2015; 35:1243-1246.
  3. ACOG Practice Bulletin 163 Obstet Gynecol. 2007 Jan;109(prenatal 1):217-27.

A: For trisomy 21, the Harmony test has been shown to have a PPV of 93% in the high-risk populationi and 81% in the general populationii in blinded published studies.1-3 Positive predictive value (PPV) is the probability that a positive test result is a true positive result. In contrast, first trimester serum screening has a PPV of 6% in the high-risk population or in a 35-year-old population.

Read more about the PPV of the Harmony test versus other first trimester trisomy screening methods.

 

i PPV value for trisomy 21 in a 35-year old population, incidence of 1/249.

ii PPV value for trisomy 21 in a general population (18-48), incidence of 1/417.

References

  1. Norton et al. N Engl J Med. 2015 Apr 23;372(17):1589-97.
  2. Norton et al. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8.
  3. Stokowski et al. Prenatal Diagn. 2015: DOI: 10.1002/pd.4686.

A: At 10 weeks' gestational age, a patient can request the Harmony prenatal test.

A: The Harmony test is a screening test that delivers clear answers as early as the first trimester with a single blood draw. Other conventional tests for Down syndrome are performed later in pregnancy and may require multiple office visits. Traditional serum screening tests are associated with a false-positive rate as high as 5%.1

The Harmony test uses a unique method of targeted DNA analysis that, combined with extensive quality controls, achieves over 99% in detection rate and a false-positive rate of less than 0.1% for trisomy 21.2,3

 

References

  1. Ashoor et al. Ultrasound Obstet Gynecol. 2013 Jan;41(1):21-5.
  2. Norton et al. N Engl J Med. 2015 Apr 23;372(17):1589-97.
  3. Stokowski et al. Prenatal Diagn. 2015: DOI: 10.1002/pd.4686.

A: Only the Harmony test uses a unique targeted approach (DANSRTM and FORTETM) to more accurately assess the chromosomes of interest. 

Read more about how the Harmony test differs from other cfDNA-based tests.