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What is Harmony

The Harmony® prenatal test is a blood test that screens for trisomy 21, trisomy 18 and trisomy 13. Additional menu options include monosomy X and other sex chromosome aneuploidies, 22q11.2 microdeletion, and fetal sex. The test can be performed as early as 10 weeks of gestation and is validated for pregnant women of any age and risk category.1 The Harmony test can be used in singleton, twin and self- and non-self egg donor pregnancies.

Performance of the Harmony test

The Harmony test delivers consistent, industry-leading performance for trisomy 21, trisomy 18 and trisomy 13 across clinical studies.2


References

  1. Any risk refers to the average risk population (under age 35) and high risk population (over age 35). The Harmony test has been studied in women ages 18-48. Pregnancies with more than two fetuses, a history of vanishing twin, maternal organ transplant or maternal aneuploidy are not eligible for the Harmony test.
  2. Stokowski et al. Prenat Diagn. 2015 Dec;35(12):1243-6.

22q11.2 microdeletion

22q11.2 microdeletion, an absence of a small piece of chromosome 22,1 happens in about 1 in 1000 pregnancies.2,3 It is the second most common genetic cause of heart defects and developmental delay after Down syndrome,4 and is the underlying cause of DiGeorge and velocardiofacial syndromes (VCFS). 22q11.2 microdeletion is not reliably detected by routine prenatal screening or karyotype.4 Unlike trisomies, maternal age is not a risk factor for the microdeletion2 and family history cannot reliably predict its occurrence as more than 90% of affected individuals have no family history.5

The performance of the Harmony test for 22q11.2 microdeletion has been evaluated in a study including over 1900 samples, including 129 with confirmed deletions. The Harmony test was able to reliably identify pregnancies at risk for 22q11.2 deletions of 3Mb and smaller with a low false positive rate.1

Download 22q11.2 study summary

References

  1. Schmid et al. Fetal Diagn Ther 2017; Doi:10.1159/000484317.
  2. Grati et al. Prenat Diagn 2015;35:801-809.
  3. Wapner et al. N Engl J Med 012;367:2175-2184.
  4. McDonald-McGinn et al. Gnet Med.2001 Jan-Feb:3(1):23-9.
  5. Bassett et al. JPediatr. 2011 Aug;159(2):332-9. 

Sex chromosome aneuploidies

Individuals typically have two X chromosomes or one X and one Y chromosome. Any variation from the typical number of X and Y chromosomes in the cells is called a sex chromosome aneuploidy (SCA). SCAs have a combined prevalence of about 1:500.1 Conditions associated with SCAs have widely variable clinical features that are often subtle but can include birth defects, infertility and learning differences. Most SCAs are not reliably detected by routine prenatal screening.

References

  1. Thompson and Thompson. Genetics in Medicine, Sixth Edition. Robert L Nussbaum, Roderick Mclnnes, Willard Huntington, Saunders, 2001.

Twin pregnancies

Performance of the Harmony test has been published in peer-reviewed studies including over 1,300 twin pregnancies and has been used in over 16,000 twin pregnancies across the world.1,2,3,4,5,6,7

Clinical scenarios included in published Harmony twin studies

  • Monochorionic twins
  • Dichorionic twins
  • Twins conceived with in vitro fertilization (IVF)
  • Twins conceived naturally
  • Pregnancies where both twins have aneuploidy
  • Pregnancies where only one twin has aneuploidy
  • First trimester testing
  • Second trimester testing

References

  1. del Mar Gil M, et al. Fetal Diagn Ther. 2014;35(3):204-211.
  2. Struble C et al. Fetal Diagn Ther. 2013;35(3):199-203.
  3. Bevilacqua E, et al. Ultrasound Obstet Gynecol. 2015;45(1):61-66.
  4. Stokowski et al. Prenat Diagn. 2015 Dec;35(12):1243-6.
  5. Sarno L, et al. Ultrasound Obstet Gynecol. 2016;47(6):705-711.
  6. Jones KJ, et al. Obstet Gynecol. 2018 51:274-277.
  7. Data on file.

Superior performance in the general population

The Harmony test outperformed traditional first-trimester screening (FTS) in a landmark study (NEXT) published in the New England Journal of Medicine.1 In this prospective blinded study, the Harmony test was found to be superior to FTS in terms of detection rate, false positive rate and positive predictive value for trisomy 21.

 

Watch video by Ron Wapner, MD, co-author of the NEXT study


 

Professional societies such as The International Society for Prenatal Diagnosis (ISPD) and American College of Medical Genetics and Genomics (ACMG) support offering NIPT as a first-line screen.

“The following protocol options are currently considered appropriate: cfDNA screening as a primary test offered to all pregnant women.”2

“ACMG recommends informing all pregnant women that NIPS is the most sensitive screening option for trisomy 21, trisomy 18, and trisomy 13.”3

References

  1. Norton et al. Am J Obstet Gynecol.2012 Aug;207(2):137-8.
  2. Benn et al. Prenat Diagn 2015; 35: 725–734.
  3. Gregg et al. Genetics in Medicine 2016 Oct; 18(10):1056-65.

The Harmony Test Difference

Most broadly studied NIPT

Demonstrated in studies involving >148,000 women in >48 peer-reviewed publications.1

The Harmony test has been studied in more scientific publications than any other cell-free DNA-based prenatal test.1 Performance of the Harmony test has been extensively demonstrated in singleton and twin pregnancies and in women of any age or risk category.2,3,4,5  Other peer-reviewed studies have evaluated clinical implementation6 and the accuracy and reproducibility of the Harmony fetal fraction assessment7.

Examine the clinical evidence summaries.

 

Fewer complex conversations

The Harmony test menu focuses on clinically relevant conditions, minimizing overall false positive rates.

“More” is not necessarily “better”.

Other NIPT labs offer testing for panels of rare microdeletion syndromes with limited medical value.  Each condition tested has an associated false positive rate and adds to the total false positive rate of the test.

Harmony focuses on clinically relevant conditions and provides flexibility to order only the tests that are appropriate in a given situation. This minimizes unnecessary invasive procedures due to false positive results, while addressing the conditions that are likely to be of greatest concern for patients and physicians.

See the Harmony test report

Confidence in results

Results based on demonstrated accurate fetal fraction evaluation.

Fetal fraction, the relative amount of fetal cfDNA in the mother’s blood compared to the total cfDNA, is an important quality metric for NIPT.8,9,10 cfDNA-based prenatal tests that do not accurately evaluate nor require a minimum threshold of fetal fraction may release results based solely on maternal DNA.11 That’s why International Society of Prenatal Diagnosis (ISPD) , American College of Obstetricians and Gynecologists (ACOG), and American College of Medical Genetics and Genomics (ACMG) have emphasized the importance of fetal fraction in cfDNA-based testing. 8,9,10 The Harmony test incorporates and reports fetal fraction in its test result and provides a personalized probability score for each patient.

The accuracy and reproducibility of the Harmony fetal fraction assessment has been demonstrated in a peer-reviewed study including over 47,500 clinical samples.6 The importance of fetal fraction accuracy was highlighted when researchers submitted the blood of two non-pregnant women for NIPT at five different laboratories. The Harmony test correctly reported insufficient fetal cfDNA for analysis. Laboratories that do not measure fetal fraction or do not measure fetal fraction accurately provided a result based on maternal cfDNA. 11

References

  1. Demonstrated by 48 peer-reviewed studies using the Harmony prenatal test as of Jan 2018.
  2. Norton et al. Am J Obstet Gynecol.2012 Aug;207(2):137-8.
  3. Stokowski et al. Prenat Diagn. 2015 Dec;35(12):1243-1246
  4. Nicolaides et al. Am J Obstet Gynecol.2012 Nov;207(5):374.e1-6.
  5. Gil et al. Fetal Diagn Ther.2014;35:204-211.
  6. Kagan et al. Ultrasound Obstet Gynecol.Sep 19. doi:10.1002/uog.18905.
  7. Schmid et al. Ultrasound Obstet Gynecol. 2018; doi:10.1002/uog.19036
  8. Benn et al. Prenat Diagn 2015; 35: 725–734.
  9. Gregg et al. Genetics in Medicine 2016 Oct; 18(10):1056-65.
  10. Committee Opinion No. 640: Obstet Gynecol 2015; 126: e31-37.
  11. Takoudes and Hamar.Ultrasound ObstetGynecol 2015;14:112-116. 

Simple process for you and your patients.

How it works

  • Simple process for you and your patients.
  • Order the Harmony test as early as 10 weeks of pregnancy
  • Send a blood sample for analysis using the Harmony specimen and transportation box
  • Receive results as soon as 3 days and most within 5 days after sample receipt
  • Get clear reports and support from our provider portal, client services and team of genetic counselors

Expecting parents educational resources

General Harmony test brochure

Expecting parent education video

Prenatal testing education flipbook

22q11.2 deletion information leaflet

Educational video on 22q11.2 deletion 

Our History

The CLIA-certified and CAP-accredited clinical laboratory of Ariosa Diagnostics,Inc., is backed by Roche with its 90,000+ team members and 120+ years of dedication to you and your patients.

Read our history

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.

A:

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. Norton et al. N Engl J Med. 2015 Apr 23;372(17):1589-97.
  2. Ashoor et al. Ultrasound Obstet Gynecol. 2013 Jan;41(1):21-5.
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.

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

iiPPV 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

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References

  1. Demonstrated by 48 peer-reviewed studies using the Harmony prenatal test as of Jan 2018. (All 48 references can be viewed at harmonytest.com/references.)
  2. Norton et al. New Engl J of Med. 2015; 372(17):1589-1597.
  3. Schmid et al. Ultrasound Obstet Gynecol. 2018; doi:10.1002/uog.19036.

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.

 

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