NIPT

Implementing the Harmony® prenatal test in your laboratory

Since 2012 the Harmony prenatal test has been ordered for more than 1.4 million women and is trusted by healthcare providers in more than 100 countries.1

The Harmony prenatal test (Harmony test) provides an individualized assessment for the most common fetal aneuploidies. Its proprietary DANSR assay and FORTE algorithm have been studied extensively with consistently superior results in both high-risk and average-risk populations.2-3

The Harmony test consists of the CE-marked Harmony IVD Kit, AcfS Software (which includes the FORTE algorithm), and a set of required equipment including the Concerto Imager IVD. 

Harmony Test Menu

  • Trisomy 21 (Down syndrome)
  • Trisomy 18
  • Trisomy 13


Additional Test Options

  • Fetal Sex
  • Monosomy X*
  • Sex Chromosome Aneuploidies*
  • 22q11.2 deletion*

*singleton pregnancies only


Validated Patient Populations

  • Singleton Pregnancies
  • Twin Pregnancies
  • IVF Pregnancies 
    • self and non-self egg donors
  • In both average and high risk population (women under and over age 35)


Clinical Performance

The Harmony test is the most broadly studied cell-free DNA test with greater than 148,000 women studied in 48 peer-reviewed publications.4

References
  1. Data on file, available in more than 100 countries. More than 1,400,000 tests performed.
  2. Norton et al. N Engl J Med. 2015. Apr 23,372(17):1589-97.
  3. Stokowski et al. Prenat Diagn. 2015 Dec;35(12):1243-6.
  4. Demonstrated by 48 peer-reviewed published studies using the Harmony prenatal test as of Jan 2018. For the entire 48 references, please go to harmonytest.com/references

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 in this document. Before making any treatment decisions, 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. The Ariosa cell-free DNA System (AcfS) is only available outside of the US. The Harmony CE-IVD Kit is not available for sale in the United States. HARMONY and HARMONY and Design are trademarks of Ariosa Diagnostics, Inc. in the US.

HARMONY is a trademark of Roche in other countries.  All other product names and trademarks are the property of their respective owners.

Notice of Patient Privacy Practices

Harmony test targeted technology - DANSR assay and FORTE algorithm

The DANSR assay technology specifically targets just the chromosomes of interest for deep, directed analysis.1 This reduces complexity of unutilized sequencing data compared to massively parallel shotgun sequencing (MPSS) techniques.1, 2

In practice, DANSR assay technology significantly improves assay efficiency and reduces overall test cost.2  Together the DANSR assay and FORTE algorithm are optimized to provide a streamlined workflow.

DANSR assay approach and benefits
  • Specific chromosomes of interest are targeted by hundreds of DANSR assays
  • Eliminates lengthy and time-consuming whole genome data generation2
  • Enables streamlined workflow
Dansr technology
Single Nucleotide Polymorphism (SNP) analysis for fetal fraction

Reliable NIPT results require an accurate fetal fraction assessment.3

The Harmony test uses SNPs to analyze and report fetal fraction for every sample. SNPs are the most common type of genetic variation between individuals, with a normal occurrence of one in every 300 nucleotides.4,5 Detection of these variations allows for accurate determination of fetal fraction.6

  • Hundreds of SNPs are analyzed
  • Fetal fraction is determined for every sample
  • Ensures sufficient fetal fraction for accurate NIPT

 

Failure to accurately measure fetal fraction can lead to erroneous results based on maternal DNA3
  • Researchers submitted the blood of two non-pregnant women for NIPT at five different laboratories and found:
    • Three out of five laboratories reported a negative screen consistent with a female fetus
    • One laboratory reported, and quantified, a fetal fraction too low to perform NIPT
    • The Harmony Test accurately reported insufficient fetal fraction with no misleading results*

      *Blinded samples. NIPT manufacturer results identified by results reporting convention.

 

NIPT Results for Two Non-pregnant Women3

View Full Table

NIPT Results for Two Non-pregnant Women3

NIPT Results for Two Non-pregnant Women3
  PATIENT 1   PATIENT 2  

LABORATORY TEST

RESULTS

DETAILS

RESULTS

Details

Harmony Prenatal Test

No

Insufficient fetal cfDNA

No

Insufficient fetal cfDNA

Panorama No Unable to report due to low fetal fraction (0.6%) No

Unable to report due to low fetal fraction (0.6%)

MaterniT21

Yes

4.3% fetal fraction, negative screen consistent with female fetus

Yes

3.9% fetal fraction, negative screen consistent with female fetus

Illumina-based NIPT

Yes

XX fetus, no aneuploidy detected

Yes

XX fetus, no aneuploidy detected

Illumina-based NIPT

Yes

XX fetus, no aneuploidy detected

Yes

XX fetus, no aneuploidy detected

Custom microarray precision

DANSR assay is a proprietary analysis highly targeted for the specific chromosomes of interest. As such, it is extremely well-suited to take advantage of the benefits of microarray technology.

Incorporation of microarray technology results in decreased variance in chromosome cfDNA counts, increased fetal fraction precision, lower cost and dramatically reduced time-to-result.2

Advantages of the Harmony test on microarray
  • Improves assay precision two-fold compared to next-generation sequencing2
  • Increases SNP assays for fetal fraction approximately 3-fold compared to next-generation sequencing, making the fetal fraction measurement more accurate2
workflowMicroarrayvsSequencing
FORTE algorithm

The FORTE algorithm is the proprietary analysis for the Harmony test, which is included in the AcfS Software. It incorporates individual patient factors including fetal fraction, maternal age, and gestational age to clearly distinguish between high and low probability results.7 Compared with commonly utilized Z-Statistic scoring, FORTE provides greater discrimination between true positive and true negative results.7

FORTE approach and benefits
  • Targeted analysis plus patient factors generate an individually weighted probability assessment7
  • Clearer separation between low and high probability results provides greater confidence even at low fetal fraction 
Harmony Test(Forte)
References
  1. Sparks et al. Prenat Diagn. 2012 Jan;32(1):3-9.
  2. Juneau et al. Fetal Diagn Ther. 2014. 36(4)282-6.
  3. Takoudes and Hamar. Ultrasound Obstet Gynecol 2015; 14:112-116. 
  4. https://ghr.nlm.nih.gov/chromosome
  5. https://ghr.nlm.nih.gov/primer/genomicresearch/sn Accessed April 24, 2017
  6. Schmidt et.al  Ultrasound Obstet Gynecol. 2018 Feb  doi.org/10.1002/uog.19036
  7. Sparks et al. Am J Obstet Gynecol. 2012;206(4):319e1-9

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 in this document. Before making any treatment decisions, 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. The Ariosa cell-free DNA System (AcfS) is only available outside of the US. The Harmony CE-IVD Kit is not available for sale in the United States. HARMONY and HARMONY and Design are trademarks of Ariosa Diagnostics, Inc. in the US.

HARMONY and DANSR are trademarks of Roche in other countries. All other trademarks are the property of their respective owners.

Notice of Patient Privacy Practices

The Harmony test is run on the Ariosa cell-free DNA System (AcfS). This modular system was designed to streamline DANSR assay and FORTE algorithm–based NIPT, while providing cost-efficient scalability.

AcfS approach and benefits
  • DANSR assay and FORTE algorithm provide exceptional NIPT sensitivity and specificity1

  • Modular system design streamlines workflow and scalability

  • No hidden data storage fees

  • Maximum hands-free operation with no manual pipetting

  • User-friendly CE IVD-marked AcfS Software and Concerto provide full automation control and library-to-results sample tracking

  • Local NIPT reduces wait time and maintains on-site results security

     

    Regions that do not recognize the CE Mark may contact us for further information. 

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

Evaluation of automated cfDNA extraction methods

This evaluation compares the performance of three automated cell-free DNA (cfDNA) extraction platforms (MagNA Pure 24, MagNA Pure 96, and QiaSymphony SP/AS) when used with the Roche Harmony prenatal test. The following white paper provides more information about this study: Evaluation of Automated Cell-Free DNA Extraction Methods with Harmony® prenatal test.

Download Whitepaper

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 in this document. Before making any treatment decisions, 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. The Ariosa cell-free DNA System (AcfS) is only available outside of the US. The Harmony CE-IVD Kit is not available for sale in the United States. HARMONY and HARMONY and Design are trademarks of Ariosa Diagnostics, Inc. in the US. 

HARMONY is a trademark of Roche in other countries. DANSR is a trademark of Roche. All other product names and trademarks are the property of their respective owners. 

Notice of Patient Privacy Practices

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For Harmony Kit and AcfS customers

Please contact your local Roche affiliate for support and questions

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 in this document. Before making any treatment decisions, 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. The Ariosa cell-free DNA System (AcfS) is only available outside of the US. The Harmony CE-IVD Kit is not available for sale in the United States.

HARMONY is a trademark of Roche in other countries. All other trademarks are the property of their respective owners.

Notice of Patient Privacy Practices