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Register me to receive email updates from Roche Diagnostics regarding the Harmony Test

The Harmony prenatal test was developed by Ariosa Diagnostics, a CLIA-certified laboratory. As with other laboratory-developed tests, it has not been cleared or approved by the FDA and is not available for sales as an IVD in the U.S. Non-invasive prenatal testing (NIPT) based on cell-free DNA analysis is not diagnostic; results should be confirmed by diagnostic testing.

ARIOSA, the Ariosa Logo, ARIOSA DIAGNOSTICS, the Ariosa Diagnostics Logo, HARMONY PRENATAL TEST and HARMONY are trademarks of Roche.

All other trademarks are the property of their respective owners.

What is the Harmony prenatal test?

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.* The Harmony test can be used in singleton, twin and self- and non-self egg donor pregnancies.

Consistently Accurate Results

The Harmony test delivers consistent, industry-leading performance for trisomy 21, trisomy 18 and trisomy 13 across clinical studies.1

22q11.2 microdeletion

22q11.2 microdeletion, an absence of a small piece of chromosome 22, 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 prenatal test for 22q11.2 microdeletion has been evaluated in a study including over 1,900 samples, including 129 with confirmed deletions. The Harmony prental test was able to detect deletions between 1.96 and 3Mb. 15% of individuals with 22q11.2 will have smaller or atypical deletions, and the Harmony prenatal test is the only test validated to detect these smaller deletions.6

Download Study Prenatal Screening for 22q11.2 Deletion Using a Targeted Microarray-Based Cell-Free DNA Test

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 1:500.7 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.

Twin pregnancies

The performance of the Harmony prenatal test has been published in peer-reviewed studies in the following clinical scenarios:

  • 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

The Harmony prenatal test has been validated in twin pregnancies, with a higher detection rate and lower false-positive rate compared to combined (serum) screening8,9 and utilizes SNP technology to ensure a reliable 4% fetal fraction threshold for each fetus, to assess risk for fetal aneuploidies.10-12

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

1.Stokowski et al. Prenat Diagn. 2015 Dec;35(12):1243-6. 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. 6.Schmid et al. Fetal Diagn Ther 2017; Doi:10.1159/000484317. 7.Thompson and Thompson. Genetics in Medicine, Sixth Edition. Robert L Nussbaum, Roderick Mclnnes, Willard Huntington, Saunders, 2001. 8.Bevilacqua et al. Ultrasound Obstet Gynecol. 2015 Jan;45(1):61-6. 9.Gil et al. Fetal Diagn Ther. 2014;35:204-11. 10.Canick et al. Prenat Diagn. 2013 Jul;33(7):667-74. 11.Struble et al. Fetal Diagn Ther.2013;35(3):199-203.12.Sehnert et al. Clin Chem. 2011 Jul;57(7):1042-9.

The Harmony prenatal test was developed by Ariosa Diagnostics, a CLIA-certified laboratory. As with other laboratory-developed tests, it has not been cleared or approved by the FDA and is not available for sales as an IVD in the U.S. Non-invasive prenatal testing (NIPT) based on cell-free DNA analysis is not diagnostic; results should be confirmed by diagnostic testing.

ARIOSA, the Ariosa Logo, ARIOSA DIAGNOSTICS, the Ariosa Diagnostics Logo, HARMONY PRENATAL TEST and HARMONY are trademarks of Roche.

All other trademarks are the property of their respective owners.

Superior performance in the general population

The Harmony prenatal test significantly outperformed traditional First Trimester Screening (FTS*) in the landmark study (NEXT) published in the New England Journal of Medicine. In this prospective blinded study, Harmony was found to be superior to FTS* in detection rate, false-positive rate, and positive predictive value for trisomy 21.1

Professional societies such as the American College of Obstetricians and Gynecologist, Society for Maternal Fetal Medicine, and the American College of Medical Genetics and Genomics support offering cell-free DNA screening.2,3

ACOG/SMFM “all women should be offered the option of aneuploidy screening for fetal genetic disorders, regardless of maternal age.”

ACMG “informing all pregnant women that non-invasive prenatal screening is the most sensitive screening option for traditionally screened aneuploidies (i.e. Patau, Edwards, and Down syndromes).

 

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


Importance of fetal fraction

Fetal fraction is the amount of fetal cell-free DNA (cfDNA) coming from the pregnancy that is present in the blood sample. Underestimating fetal fraction may cause valid samples to be rejected, and overestimating could lead to samples with insufficient cell free DNA giving a false negative result.4 The Harmony prenatal test requires a minimum of 4% fetal fraction as a quality control metric to ensure there is enough fetal DNA to produce an accurate patient result.

The American College of Medical Genetics and Genomics (ACMG) position statement acknowledges that data suggest the lower limit of fetal cfDNA for a reliable result is approximately 4%.2

  • Fetal fraction below this threshold may lead to an erroneous result of low-risk aneuploidy.5-7
  • Fetal fraction increases with gestational age and decreases with increasing maternal weight.8

There are different methodologies that can be used to measure fetal fraction, and these different methods have varying degrees of accuracy. The core technologies of the Harmony prenatal test incorporate fetal fraction into results to accurately distinguish high and low probability results (even at low fetal fraction).

Targeted approach to deeper analysis

The Harmony prenatal test relies on a proprietary, targeted DNA-based technology including both the Digital Analysis of Selected Regions (DANSR™) assay quantified on microarray and Fetal Fraction Optimized Risk of Trisomy Evaluation (FORTE™) algorithm to provide exceptionally accurate results.

DANSR

  • Specifically targets the chromosomes of interest for deeper analysis
  • Precisely measures and distinguishes fetal fraction by using SNP technology

 

FORTE

  • Clearly distinguishes high and low probability results
  • Outperforms the Z-statistic approach regardless of the patient’s age or risk7
  • Incorporates maternal age, gestational age, fetal fraction and chromosome quantification

Individualized probability score for your patient

* Serum PAPP-A, total or free ß-hCG & Nuchal Translucency

1. Norton et al. N Engl J Med. 2015 Apr 23;372(17):1589-97. 2. Gregg et al. Noninvasive prenatal screening for fetal aneuploidy. Genetics in Medicine. 2016 Oct;1-10. 3. ACOG Committee Opinion No. 163: Obstet Gynecol 2016 May. 4. Artieri et al. Prenat Diagn. 2017 May;37(5):482-490. doi: 10.1002/pd.5036. Epub 2017 Apr 26. 5. Sparks et al. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9. 6. Palomaki et al. Genet Med 2012;14:296-305. 7. Canick et al. Prenat Diagn. 2013 Jul;33(7):667-74. 7. Wang et al. Prenat Diagn. 2013;33:1-5 8. Ashoor G et al. Am J Obstet Gynecol. 2012 Apr;206(4):322.e1-5.

The Harmony prenatal test was developed by Ariosa Diagnostics, a CLIA-certified laboratory. As with other laboratory-developed tests, it has not been cleared or approved by the FDA and is not available for sales as an IVD in the U.S. Non-invasive prenatal testing (NIPT) based on cell-free DNA analysis is not diagnostic; results should be confirmed by diagnostic testing.

ARIOSA, the Ariosa Logo, ARIOSA DIAGNOSTICS, the Ariosa Diagnostics Logo, HARMONY PRENATAL TEST and HARMONY are trademarks of Roche.

All other trademarks are the property of their respective owners.

The Harmony Difference

Most broadly studied NIPT

The Harmony prenatal test has been studied in more scientific publications than any other cell-free DNA based prenatal test.1 Performance has been extensively demonstrated in singleton and twin pregnancies and in women of any age or risk category.2-5 Other peer-reviewed studies have evaluated clinical implementation6 and accuracy and reproducibility of the Harmony prenatal test fetal fraction assessment.7

Read clinical evidence summaries.

Peer reviewed publications

Fewer complex conversations

The Harmony prenatal 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 which 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 providers.

View sample test reports

Positive Predictive Value

Positive predictive value (PPV) indicates the likelihood of a high probability result being a true positive. PPV is based on both the performance of the test and the prevalence of the condition in a particular population. For example, in a population of 15,841 women presenting for routine prenatal aneuploidy screening (the Harmony-NEXT study), 38 of 47 high risk Harmony results were confirmed by diagnostic testing. This corresponds to an observed PPV of 80.9% for trisomy 21 in this population.

PPV is a population-based statistic. To apply observed PPV in a clinical setting, the population or individual being screened must be directly comparable to the original population tested. The table below is based on an estimated pre-test risk. Clinicians should exercise caution as these calculations are intended for educational purposes and not for patient-specific counseling.

Confidence in results

Results based on proven accurate fetal fraction evaluation

Fetal fraction, the relative amount of DNA from the pregnancy in the mother’s blood compared to the total cfDNA, is an important quality metric for NIPT.8-10 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. That’s why 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.9-10

The accuracy and reproducibility of the Harmony Prenatal Test fetal fraction assessment has been demonstrated in a peer-reviewed study including over 47,500 clinical samples. Read study (Accuracy of fetal fraction measurement, Schmid)

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. ACOG Committee Opinion No. 163: Obstet Gynecol 2016 May.
  11. Calculated based on sensitivity and specificity information from: Stokowski et al. Prenat Diagn. 2015;35:1-4.

The Harmony prenatal test was developed by Ariosa Diagnostics, a CLIA-certified laboratory. As with other laboratory-developed tests, it has not been cleared or approved by the FDA and is not available for sales as an IVD in the U.S. Non-invasive prenatal testing (NIPT) based on cell-free DNA analysis is not diagnostic; results should be confirmed by diagnostic testing.

ARIOSA, the Ariosa Logo, ARIOSA DIAGNOSTICS, the Ariosa Diagnostics Logo, HARMONY PRENATAL TEST and HARMONY are trademarks of Roche.

All other trademarks are the property of their respective owners.

Simple process for you and your patients.

To support you and your practice we offer the following resources to healthcare providers:

Harmony Care Specialist to assist with pre-test inquiries, addressing office staff questions, requesting and updating missing claim information on the Test Requisition Form (TRF), and providing patient specific benefit details. Contact a Harmony Care Specialist today at 1-855-927-4672.

Phlebotomy service, if you do not have a phlebotomist of staff ask your Harmony representative about phlebotomy options in your area.

Genetic counseling for your patient following Harmony prenatal test results. The counselor will discuss genetic test results, medical conditions, and additional genetic testing if applicable. You and your patient will receive a consult note summarizing the discussion. There is no charge to your clinic or patient. Call 1-866-741-5331 and ask to speak with a genetic counselor.

The Harmony prenatal test was developed by Ariosa Diagnostics, a CLIA-certified laboratory. As with other laboratory-developed tests, it has not been cleared or approved by the FDA and is not available for sales as an IVD in the U.S. Non-invasive prenatal testing (NIPT) based on cell-free DNA analysis is not diagnostic; results should be confirmed by diagnostic testing.

ARIOSA, the Ariosa Logo, ARIOSA DIAGNOSTICS, the Ariosa Diagnostics Logo, HARMONY PRENATAL TEST and HARMONY are trademarks of Roche.

All other trademarks are the property of their respective owners.

A:

The Harmony prenatal test is a non-invasive, cell-free DNA-based blood screening test that assesses the probability of fetal trisomies 21, 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 21.1

Harmony can be performed as early as 10 weeks’ gestation, and results are received within 5-7 days from sample receipt at the lab.

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

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 Prenatal 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 within 5-7 days from sample receipt at the lab. The Harmony Prenatal Test can be used in conjunction with NT ultrasound.

A:

Call 1-855-927-4672. For general assistance, email sjc.clientservices@roche.com or contact your sales representative.

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, the landmark study published in the New England Journal of Medicine showed that Harmony significantly outperformed First Trimester Screening in detection rate, false-positive rate, and positive predictive value for trisomy 21.1

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

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 Prenatal Test was less than 0.1% in blinded prospective studies of over 22,000 pregnant women ages 18-48.1 False-positive rates for most conventional screening tests are generally around 5%.2

1.    Stokowski et al. Prenat Diagn. 2015 Dec;35(12):1243-6.

2.    ACOG Committee Opinion No. 163: Obstet Gynecol 2016 May.

A:

Positive predictive value (PPV) is the likelihood that a positive result is associated with an affected pregnancy. PPV is based on both the performance of the test and the prevalence of the condition in a particular population. In the NEXT study, 38 of 47 high-risk Harmony results were confirmed by diagnostic testing. This corresponds to an observed PPV of 80.9% for trisomy 21 in this population.1

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

A:

At 10 weeks' gestational age, a patient can request the Harmony Prenatal test.

A:

The Harmony prenatal 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

Harmony 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

1.    ACOG Committee Opinion No. 163: Obstet Gynecol 2016 May.

2.    Stokowski et al. Prenat Diagn. 2015 Dec;35(12):1243-6.

A:

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

A:

Contact our client services team:

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

The Harmony prenatal test was developed by Ariosa Diagnostics, a CLIA-certified laboratory. As with other laboratory-developed tests, it has not been cleared or approved by the FDA and is not available for sales as an IVD in the U.S. Non-invasive prenatal testing (NIPT) based on cell-free DNA analysis is not diagnostic; results should be confirmed by diagnostic testing.

ARIOSA, the Ariosa Logo, ARIOSA DIAGNOSTICS, the Ariosa Diagnostics Logo, HARMONY PRENATAL TEST and HARMONY are trademarks of Roche.

All other trademarks are the property of their respective owners.

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):1-6.3.Lou et al. Acta Obstet Gynecol Scand. 2015;94(1):15-27.) 4.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.)

The Harmony prenatal test was developed by Ariosa Diagnostics, a CLIA-certified laboratory. As with other laboratory-developed tests, it has not been cleared or approved by the FDA and is not available for sales as an IVD in the U.S. Non-invasive prenatal testing (NIPT) based on cell-free DNA analysis is not diagnostic; results should be confirmed by diagnostic testing.

ARIOSA, the Ariosa Logo, ARIOSA DIAGNOSTICS, the Ariosa Diagnostics Logo, HARMONY PRENATAL TEST and HARMONY are trademarks of Roche.

All other trademarks are the property of their respective owners.