Exceptional Performance

Combined Harmony test Performance across All Clinical Studies 1-3, 7-13

● The Harmony test has a less than 0.1% false-positive rate for trisomies 21, 18, and 131-3, 7-13

● Fewer than 1 in 1000 Harmony tests yield a false-positive result1-3, 7-13

● With conventional screening, as many as 1 in 20 women will receive a false-positive result 4

Learn more about Harmony Test performance

Greater clarity

Harmony Prenatal Test has exceptional accuracy, bringing clarity to genetic testing for common trisomies. 

● In blinded clinical trials, the Harmony test correctly identified over 99% of cases of trisomy 211-2

● Conventional screening tests can miss 15% or more of trisomy 21 cases4

Clear answers early, reduce follow-ups due to false-positives

The Harmony Prenatal Test helps healthcare professionals give expectant parents accurate information** about common fetal aneuploidies.1-4 Conventional prenatal screening methods using serum proteins and ultrasound have higher false-positive rates compared to the Harmony Prenatal Test.1-4 The low false-positive rate of Harmony test compared to traditional tests may minimize anxiety and invasive procedures caused by false-positive results.5-6

Any age or risk category

The Harmony Prenatal Test is clinically validated for use in pregnant women of any age or risk category* to assess the risk of fetal trisomies 21, 18 and 13.1-3

● Studied extensively in blinded prospective trials including more than 22,000 women of all ages1-2,8-9,11

● Over 1,000,000 pregnancies tested worldwide14

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

Learn more about Harmony Clinical Data

A unique methodology

The Harmony Prenatal Test uses a targeted technological approach to DNA assessment—focusing on analyzing only the specific chromosomes of interest and the precise determination of fetal fraction to achieve greater accuracy.7

Learn more about the Harmony Test’s Technology

 

References

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

**Harmony Prenatal Test is designed to screen for trisomy 21, 18, and 13, sex chromosome aneuploidy and 22q11.2 deletion. It cannot exclude all genetic defects nor detect every problem that may occur in pregnancy.

  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. Ashoor et al. Ultrasound Obstet Gynecol. 2013 Jan;41(1):21-5.
  4. ACOG Committee on Practice Bulletin No. 163. Obstet Gynecol. 2016 May;127(5):e123-37
  5. Wax et al. J Clin Ultrasound. 2015 Jan;43(1):1-6.
  6. Lou et al. Acta Obstet Gynecol Scand. 2015;94(1):15-27.
  7. Sparks et al. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9.
  8. Verweij et al. Prenat Diagn. 2013 Oct;33(10):996-1001.
  9. Nicolaides et al. Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6.
  10. Ashoor et al. Am J Obstet Gynecol. 2012 Apr;206(4):322.e1-5.
  11. Gil et al. Fetal Diagn Ther. 2014;35:204-11.
  12. Juneau et al. Fetal Diagn Ther. 2014;36(4):282-6.
  13. Stokowski et al. Prenat Diagn. 2015 Oct; DOI: 10.1002/pd.4686.
  14. Data on file.

Extensive blinded, published validation data

The Harmony Prenatal Test is broadly studied, including 12 blinded published validation trials.1-12

In blinded prospective published trials including over 29,000 pregnant women from ages 18 to 50, Harmony test demonstrated exceptional sensitivity and specificity. 1-2,4,7,119

Landmark NEXT Study shows high accuracy for the general population

In the first and only blinded prospective study of its kind, the Harmony Prenatal Test proved superior to traditional first trimester screening for the detection of trisomy 21 (Down syndrome).

Read the New England Journal of Medicine paper

Study Design

Study Results

(n=15,841)



 

The Harmony Prenatal Test Shows Clear Difference Between High-Probability and Low-Probability Results12

The below graphs represent data from the blinded prospective head to head comparison study of First Trimester Screening (FTS*) against Harmony.11, 13

Data represent 15,841 patients in a general pregnancy population.13

The Harmony Prenatal Test provides clear results for trisomy 21 risk, generating a wide separation between high-probability and low-probability values, with only extremely rare (less than 1 in 1000) false-positive results.12

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

Exceptional positive predictive value (PPV)

Positive Predictive Value (PPV) is the likelihood that a positive test result is a true-positive result. PPV varies by population.

The Harmony Test has an extremely low false-positive rate of less than 0.1% thus resulting in a high PPV for trisomy 21.1,11 The Harmony Test has a PPV for trisomy 21 of 93% in pregnancies in women age 35, where the incidence of fetal trisomy 21  is 1 in 249.1 In contrast, for this same population, the PPV of traditional first trimester screening is 6%.14

View Harmony Publications

Positive predictive value (PPV) and incidence

PPV depends on the incidence of the condition of interest. The more rare (less common) the condition, the higher the probability a positive result is a "false positive" result. 15

Testing for extremely rare conditions (1 in 10,000 incidence rate) in a routine genetic test may:

● Increase the cumulative false-positive rate of the entire test

● Increase patient anxiety and unnecessary offering of diagnostic testing for a false positive result

● Substantially lower the overall PPV of the test

References

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

  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. Ashoor et al. Ultrasound Obstet Gynecol. 2013 Jan;41(1):21-5.
  4. ACOG Committee on Practice Bulletin No. 77. Obstet Gynecol 2007;109:217-27.
  5. Wax et al. J Clin Ultrasound. 2015 Jan;43(1):1-6.
  6. Lou et al. Acta Obstet Gynecol Scand. 2015;94(1):15-27.
  7. Sparks et al. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9.
  8. Verweij et al. Prenat Diagn. 2013 Oct;33(10):996-1001.
  9. Nicolaides et al. Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6.
  10. Ashoor et al. Am J Obstet Gynecol. 2012 Apr;206(4):322.e1-5.
  11. Gil et al. Fetal Diagn Ther. 2014;35:204-11.
  12. Juneau et al. Fetal Diagn Ther. 2014;36(4):282-6.
  13. Data on file.
  14. Hooks et al. Prenat Diagn. 2014 May;34(5):496-9.
  15. Sparks et al. Prenat Diagn. 2012 Jan;32(1):3-9.
  16. Nicolaides et al. Fetal Diagn Ther. 2014;35(1):1-6

Harmony fits any practice

The Harmony Prenatal Test gives general obstetricians and specialists alike the flexibility they need to use Harmony in conjunction with other prenatal testing, including ultrasound.

Three steps to accurate trisomy screening

1.       Order the Harmony Prenatal Test as early as 10 weeks

2.       Send a blood sample for analysis using the Harmony specimen and transportation box

3.       Receive results as soon as 3 days and most within 5 days after sample receipt *

The SUPERIOR ACCURACY and low false-positive rate of the Harmony Prenatal Test compared to traditional screening tests may minimize anxiety and invasive procedures caused by false-positive results.1-3

*test turnaround time may vary depending on the completion of the test requisition form and the lab performing the test.

Integrating the Harmony Prenatal Test into existing workflow

After confirmation of pregnancy, the Harmony Prenatal Test can be performed as early as 10 weeks gestation or later in pregnancy. Test results can be available before any other aneuploidy test in pregnancy such as nuchal translucency (NT) ultrasound. Patient education needs are similar to those for other routine trisomy screening tests.

Integrating Harmony Prenatal Test into existing workflow

After confirmation of pregnancy, Harmony can be performed as early as 10 weeks gestation or later in pregnancy. Harmony can be performed with or without nuchal translucency (NT) ultrasound. Patient education needs are similar to those for other routine trisomy screening tests.

Support for your practice

Should you have questions about integrating the Harmony test into your practice, representatives are available to help. Simply complete the Get Harmony form with your contact information and a company representative will follow-up to assist you.

Reliable results, responsive service

The Harmony Prenatal Test provides exceptional accuracy and over 99% of eligible samples return results.4

If you are using the Harmony test and have questions or need assistance, please contact the Client Services department.

sjc.clientservices@roche.com

Toll-free: 1-855-927-4672
Fax: 877-927-6151 
Outside of the U.S.A.: +1 925-854-6246

Note:
The Harmony Prenatal Test is designed to assess probability  for trisomy 21, 18, and 13, sex chromosome aneuploidy and 22q11.2 deletion. It cannot exclude all genetic defects nor detect every problem that may occur in pregnancy.

  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.

A proprietary DNA-based methodology

The Harmony Prenatal Test relies on a proprietary targeted DNA-based technology (DANSR and FORTE) to provide exceptionally accurate results. 

● During pregnancy, cell-free DNA—short DNA fragments—of the mother and the fetus circulate in maternal blood

● The Harmony test analyzes fragments from specific chromosomes, rather than all chromosomes1-2

● Targeted analysis results in higher throughput and accurate trisomy risk assessment 3

DANSR Targeted Approach for Deeper Analysis vs Random Sequencing

In contrast to tests that randomly sequence all cell-free DNA (cfDNA), the Harmony test focuses on cfDNA from the chromosomes of interest.1 

 

Custom Microarray Quantifies DANSR Products with Speed and Accuracy

Microarray technology is a well-established method of quantification also used in prenatal genetic diagnostic applications. Harmony Prenatal Test is a screening test and is able utilize microarray technology due to its proprietary targeted approach.5 Microarray technology further enhances performance, speed, and efficiency.3

Significant time savings are realized with microarray versus sequencing; laboratory turnaround time is as soon as 3 days, most in 5 days after sample receipt
Robust microarray quantitation enhances the success rate: 99% of eligible samples return a result.5

Learn More

Accurate Determination of Fetal Fraction

  • FORTE accurately distinguishes between high and low probability results even at low fetal fraction 2,3
  • Incorporates maternal risk factors and precise fetal fraction determination2,3
  • Individual probability scores provided for each patient

FORTE Algorithm Incorporates Accurate Measurement of Fetal DNA, Maternal Age, and Gestational Age

FORTE Advantage

  • Clearly distinguishes high-risk and low-risk results4
  • Outperforms the Z-statistic approach4

References

  1. Sparks et al. Prenat Diagn. 2012 Jan;32(1):3-9.
  2. Sparks et al. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9.
  3. Juneau et al. Fetal Diagn Ther. 2014;36(4):282-6.
  4. Ashoor G et al., Am J Obstet Gynecol. 2012 Apr;206(4):322.e1-5.
  5. Data on file.

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

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.

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

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.

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.2

The Harmony test is validated for singleton, twin, and IVF pregnancies (including self and non-self egg donor pregnancies).11

View our list of studies.

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 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.

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.

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

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%.3
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 21.1

See details about the technology that underpins the Harmony test.

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.

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

References

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

  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. Ashoor et al. Ultrasound Obstet Gynecol. 2013 Jan;41(1):21-5.
  4. ACOG Committee on Practice Bulletin No. 77. Obstet Gynecol 2007;109:217-27.
  5. Wax et al. J Clin Ultrasound. 2015 Jan;43(1):1-6.
  6. Lou et al. Acta Obstet Gynecol Scand. 2015;94(1):15-27.
  7. Sparks et al. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9.
  8. Verweij et al. Prenat Diagn. 2013 Oct;33(10):996-1001.
  9. Nicolaides et al. Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6.
  10. Ashoor et al. Am J Obstet Gynecol. 2012 Apr;206(4):322.e1-5.
  11. Gil et al. Fetal Diagn Ther. 2014;35:204-11.
  12. Juneau et al. Fetal Diagn Ther. 2014;36(4):282-6.
  13. Data on file.
  14. Hooks et al. Prenat Diagn. 2014 May;34(5):496-9.
  15. Sparks et al. Prenat Diagn. 2012 Jan;32(1):3-9.
  16. Nicolaides et al. Fetal Diagn Ther. 2014;35(1):1-6

Harmony Performance in the General Population Published in the New England Journal of Medicine

Dr. Ron Wapner presents the NEXT study data published in the New England Journal of Medicine. Study results: Harmony outperforms first trimester combined screening in both detection and false-positive rate in a head to head comparison blinded study (n=15,841)

Published Studies

Clinical Validity and Use
Study
Subjects
Reference
Cell-free DNA analysis for Non-invasive Examination of Trisomy (NEXT)
15,841 N Engl J Med. 2015 Apr 1. [Epub ahead of print] DOI: 10.1056/NEJMoa1407349 
NICE-Cohort validation study
3,228 Norton et al.  Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8.
General screening population, 1st trimester
2,049 Nicolaides  et al.  Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6.
Trisomy 13
1,949 Ashoor et al. Ultrasound Obstet Gynecol. 2013 Jan;41(1):21-5.
Kypros Nicolaides clinical implementation
1,005 Gil et al. Ultrasound Obstet Gynecol. 2013 Jul;42(1):34-40.
EU-NITE–European study
520 Verweij et al. Prenat Diagn. 2013 Oct;33(10):996-1001.
High-risk population, 1st trimester
400 Ashoor et al. Am J Obstet Gynecol. 2012 Apr;206(4):322.e1-5.
FORTE
338 Sparks et al.  Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9.
DANSR
298 Sparks et al. Prenat Diagn. 2012 Jan;32(1):3-9.
Ob/Gyn real world experience
289 Fairbrother et al. Prenat Diagn. 2013 Jun;33(6):580-3.
Twins study
275 Mar Gil et al. Fetal Diagn Ther. 2014;35:204-11.
Sex chromosome aneuploidies
177 Nicolaides et al. Fetal Diagn Ther. 2014;35(1):1-6.
Sex chromosome aneuploidies
432 Hooks et al. Prenat Diagn. 2014 May;34(5):496-9.
Microarray-based cell-free DNA analysis
878 Juneau et al. Fetal Diagn Ther. 2014;36(4):282-6
Clinical performance with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies
  Stokowski et al. Prenat Diagn. 2015 Oct; DOI: 10.1002/pd.4686
Show More Show Less
Fetal Fraction
Study
Subjects
Reference
Maternal weight effects–commercial data
22,000 Wang et al. Prenat Diagn. 2013 Jul;33(7):662-6.
Consistent in high and low-risk women
3,007 Brar et al. J Matern Fetal Neonatal Med. 2013 Jan;26(2):143-5.
Maternal weight and fetal factors, study 2
1,949 Ashoor et al. Ultraound Obstet Gynecol. 2013 Jan;41(1):26-32.
Maternal weight and fetal factors, study 1
400 Ashoor et al. Fetal Diagn Ther. 2012;31(4):237-43.
Fetal fraction in twins
70 Struble et al., Fetal Diagn Ther. 2014;35:199-203.

Brochures

Harmony Prenatal Test 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.

Harmony Prental Test Brochure for Expecing Parents

 

Links

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

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