Answers to HCP questions regarding Harmony NIPT test

Questions & 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

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.

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. Administer a simple blood draw directly or through a participating laboratory and send it to Ariosa Diagnostics using the specimen collection and transportation kit. Receive a report detailing test results in as little as 3 days, most in 5 days after sample receipt. The Harmony test can be used in conjunction with NT ultrasound. Patient education is similar to that required for conventional trisomy screening tests.

Call 1-855-927-4672. Outside the USA, call +1 925-854-6246. For general assistance, email sjc.clientservices@roche.com.

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, recent 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

The Harmony test is validated for singleton, twin, and IVF pregnancies (including self and non-self egg donor pregnancies).2

View our list of studies

References

  1. Norton et al. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8.
  2. 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.False-positive rates for most conventional screening tests are generally around 5%.2

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

References

  1. Stokowski et al. Prenatal Diagn. 2015; 35:1243-1246.
  2. 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.1-2 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.

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.

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

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.

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.

A: Contact our client services team:

Tel: 925.854.6246
Email: sjc.clientservices@roche.com