NIPT

Implementing the Harmony® Prenatal Test in your laboratory

Since 2012 the Harmony Prenatal Test has been ordered for more than 1 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 and FORTE technology 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 analysis 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*

*singleton pregnancies only

Validated Patient Populations

●      Women 18-48 years of age
●      Singleton Pregnancies
●      Twin Pregnancies
●      IVF Pregnancies
self and non-self egg donors

Patient Sample Requirements

●      Sample Collection Tubes
●      Maternal Age
●      Gestational Age

≥ 10 weeks

Clinical Performance

The Harmony Test is the most extensively studied NIPT available on the market; including eleven blinded validation studies comprised of more than 23,000 pregnancies in both high and average risk women aged 18 to 48.3

References

1.       Data on file, available in more than 100 countries. More than 1,000,000 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.       White K et al. Performance of Targeted cfDNA analysis with Microarray Quantitation for Assessment of Fetal Sex and Sex Chromosome Aneuploidy Risk. Presented at ACMG, Tampa, FL March 2016.

Harmony Test Targeted Technology - DANSR

Digital Analysis of Selected Regions (DANSR)

DANSR technology specifically targets just the chromosomes of interest for deep, directed analysis.1-2 In contrast, the majority of data generated by expansive (and expensive) whole genome sequencing has no relevance to aneuploidy screening.3

In practice, DANSR technology significantly improves assay efficiency, reduces overall test cost and provides for optimally streamlined workflow.1,2

DANSR APPROACH

●      Specific chromosomes of interest are targeted by hundreds of DANSR analyses

●      Eliminates lengthy and time-consuming whole genome data generation2

DANSR BENEFITS

●      Streamlined workflow

●      Cost-efficiency

Single Nucleotide Polymorphism (SNP) Analysis for Fetal Fraction

Because NIPT cannot provide reliable results on blood samples with a fetal chromosome fraction less than 4%,5 an accurate approach to fetal fraction measurement is essential.

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.6 Detection of these variations allows for reliable determination of fetal fraction.

●      Hundreds of SNPs are analyzed

●      Fetal fraction is determined for every sample

BENEFITS

●      Ensures sufficient fetal fraction for accurate NIPT

●      Eliminates the potential of NIPT results based on maternal cfDNA

The importance of fetal fraction accuracy was highlighted when researchers submitted the blood of two non-pregnant women for non-invasive prenatal testing at five different laboratories.7

-

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

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.

●      Only the Harmony NIPT laboratory accurately reported insufficient fetal fraction with no misleading results.*

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

Custom Microarray Precision

DANSR 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

MICROARRAY APPROACH 2

●      Improves assay precision two-fold compared to next-generation sequencing

●      Increases SNP assays for fetal fraction approximately 3-fold compared to next-generation sequencing, making the fetal fraction measurement more accurate

 

MICROARRAY BENEFITS 2

●      Significantly increased assay precision

●      Lower test cost

●      Dramatically decreased time-to-result

FORTE ALGORITHM

FORTE is the proprietary Harmony Test algorithm. FORTE, which is included in the AcfS Software, incorporates individual patient factors including fetal fraction, maternal age, and gestational age to clearly distinguish between high and low probability results.1 Compared with commonly utilized Z-Statistic scoring, FORTE provides greater discrimination between true positive and true negative results.5

FORTE APPROACH

●      Targeted analysis plus patient factors generate an individually weighted probability assessment1

●      Individualized assessment allows for greater discrimination between high- and low-probability results8

FORTE BENEFITS

  • Clearer separation between low and high probability results provides greater confidence even at low fetal fraction 

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.       Jensen et al. PLoS One. 2013;8(3):e57381. 

4.       https://ghr.nlm.nih.gov/chromosome

5.       Ashoor et al. Ultrasound Obstet Gynecol. 2013 Jan; 41(1):26-32.

6.       https://ghr.nlm.nih.gov/primer/genomicresearch/snp. Accessed April 24, 2017.

7.       Takoudes and Hamar. Ultrasound Obstet Gynecol 2015; 14:112-116. 

8.       Ashoor et al. Am J Obstet Gynecol. 2012 Apr;206(4):322.e1-5.

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

AcfS APPROACH

  • DANSR and FORTE provide exceptional NIPT sensitivity and specificity1

  • Modular system design streamlines workflow and scalability

  • Complete price transparency: no hidden fees or unexpected requirements

AcfS BENEFITS

  • Maximum hands-free operation with no manual pipetting

  • User-friendly CE-marked AcfS Software provides 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.

AcfS Installation Process

The AcfS installation process is designed to transform your dedicated space into a fully qualified Harmony Prenatal Test laboratory. With expertise in optimal pre/post-PCR laboratory operation, our system engineers will ensure your technologists have all the tools and knowledge required for exceptional results. 

 

Phase 1.

Equipment Installation

Installation Qualification, Operational Qualification, Performance Qualification

Phase 2.

Customer Training

AcfS INSTALLATION APPROACH

  • Step-wise qualification ensures optimal system functionality

BENEFITS

  • Harmony NIPT laboratory established according to highest industry standards

  • Operational and Performance Qualification insures reliable system performance

Laboratory Requirements

Because NIPT result integrity requires independently dedicated laboratory space for pre-PCR and post-PCR activities, the AcfS Technical Team will provide detailed laboratory preparation instructions.

 

AcfS TRAINING COMPONENTS

Home Study Program
Practical Hands-On AcfS Training

AcfS TRAINING APPROACH

Training includes classroom training and hands-on lab training:

  • Overview of the AcfS system, equipment and details of the workflow

  • Data analysis and reporting 

  • Exploration of the function of NIPT in clinical practice

  • Comprehensive instruction on DANSR and FORTE NIPT technology

  • Emphasis on pre/post PCR best practices

BENEFITS

  • Technologist competence and confidence

  • Consistent Harmony Prenatal Test integrity

AcfS Training & Installation Timeline 

AcfS Training & Installation Timeline

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For Harmony Kit and AcfS customers

Please contact your local Roche affiliate for support and questions