Corporate Banner
Satellite Banner
Biomolecular Screening
Scientific Community
Become a Member | Sign in
Home>News>This Article

Illumina's verifi® Prenatal Test Significantly Reduces False Positive Rate of Fetal Aneuploidy Detection

Published: Thursday, February 27, 2014
Last Updated: Thursday, February 27, 2014
Bookmark and Share
Study results published in New England Journal of Medicine show the verifi® prenatal test achieves positive predictive value tenfold higher than current standard of care.

Illumina, Inc. announce that in a direct comparison of non-invasive prenatal testing (NIPT) using cell free DNA (cfDNA) to standard prenatal aneuploidy screening in a general obstetrical population, the verifi® prenatal test1 significantly reduced the rate of false positive results for the detection of fetal trisomies 21 and 18. In addition, the study demonstrated that the verifi® prenatal test performs consistently well in all pregnant women, regardless of their risk level for fetal aneuploidy. 

The results of the study, entitled "DNA Sequencing versus Standard Prenatal Aneuploidy Screening," are available online today in The New England Journal of Medicine and the full article can be accessed at The paper will be included in the February 27, 2014 print edition. 

"The study reflects the diverse clinical screening practices and ethnic variation present throughout the United States, and effectively answers questions from the medical and scientific communities regarding the positive predictive value (PPV) of the verifi® prenatal test in the general obstetric population," said Diana W. Bianchi, M.D., Executive Director of the Mother Infant Research Institute at Tufts Medical Center, and lead author of the publication. "In addition to the significant increase in PPV, the study shows similar fetal fraction distributions in both high- and low-risk pregnant women. Thus, from both a biological and technical perspective, the verifi® prenatal test performs well in pregnant women of all risk levels." 

The prospective, multi-center, blinded study analyzed samples from 1,914 pregnant women (mean age 29.6 years) at all risk levels for fetal chromosome abnormalities. The false positive rate for detection of trisomy 21 with the verifi® prenatal test was significantly lower than conventional standard screening (6/1909, 0.3% vs. 69/1909, 3.6%, p<0.0001). For trisomy 18, the verifi® prenatal test also demonstrated a lower false positive rate when compared to standard testing (3/1905, 0.2% vs. 11/1905, 0.6%, p=0.0325). Importantly, the study showed a tenfold improvement in the PPV for the verifi® prenatal test (45.4%) when compared to standard screening for trisomy 21 (4.2%) and a fivefold improvement in PPV for trisomy 18 (40% vs. 8.3%). Both the verifi® prenatal test and standard screening correctly detected all cases of trisomies 21 and 18. For all of the women enrolled in the study, pregnancy outcome and neonatal follow-up data were obtained, including physical examinations and karyotypes, if performed. 

"The results of this study demonstrate that the verifi® prenatal test could significantly improve clinical practice by reducing the number of invasive procedures needed to clarify false positive results obtained with standard screening," said Richard Rava, Ph.D., Vice President, Research and Development for Reproductive and Genetic Health at Illumina. "In this study using the verifi® prenatal test, we have shown a tenfold improvement in the PPV for trisomy 21 over conventional screening methods. Importantly, the performance of NIPT using cfDNA in a general obstetric population, representative of contemporary clinical practice in the US, is equivalent to previously demonstrated performance in high-risk pregnant women." 

Illumina's Reproductive and Genetic Health solutions use next-generation sequencing (NGS) technology and advanced microarrays to generate comprehensive, accurate genomic information to assist healthcare providers and patients in making informed decisions for their reproductive health and well-being. Illumina offers the non-invasive verifi® prenatal test (formerly offered by Verinata Health, Inc.) in their CLIA-certified, CAP-accredited clinical services laboratory, to detect chromosome abnormalities and aberrations with improved resolution for consistent and dependable results.

Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,600+ scientific posters on ePosters
  • More than 3,800+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Verinata Health's verifi® Prenatal Test Available through the California Prenatal Screening Program
verifi® prenatal test will be available to pregnant women in California.
Tuesday, November 05, 2013
Illumina Acquires Advanced Liquid Logic
Acquisition a key component in the development of complete sample-to-answer solutions for next-generation sequencing.
Wednesday, July 24, 2013
Caris Life Sciences Selects Illumina’s MiSeq® System
Collaboration enhances breadth and depth of therapeutic information to help oncologists better personalize cancer treatment.
Friday, November 09, 2012
BGI Purchases 128 Illumina HiSeq™ 2000 Sequencing Systems
Acquisition puts Beijing Genomics Institute on path to become world's largest sequencing facility.
Thursday, January 14, 2010
Expression Analysis Purchases its First Illumina Genome Analyzer
Illumina's Genome Analyzer sequencing technology will support EA's new plant and animal genomic services.
Friday, January 09, 2009
Scientific News
Potential Target for Treatment of Autism
Grant of $2.4 million will support further research.
Sniffing Out Cancer
Scientists have been exploring new ways to “smell” signs of cancer by analyzing what’s in patients’ breath.
Inroads Against Leukemia
Potential for halting disease in molecule isolated from sea sponges.
Molecular ‘Kiss Of Death’ Flags Pathogens For Destruction
Researchers have discovered that our bodies mark pathogen-containing vacuoles for destruction by using a molecule called ubiquitin, commonly known as the "kiss of death."
A New Single-Molecule Tool to Observe Enzymes at Work
A team of scientists at the University of Washington and the biotechnology company Illumina have created an innovative tool to directly detect the delicate, single-molecule interactions between DNA and enzymatic proteins.
Milestone Single-Biomolecule Imaging Technique May Advance Drug Design
The first nanometer resolved image of individual tobacco mosaic virions shows the potential of low-energy electron holography for imaging biomolecules at a single particle level; a milestone in structural biology and a potential new tool for drug design.
Multi-Gene Test Enables Some Breast Cancer Patients to Safely Avoid Chemotherapy
A major study is providing the best evidence to date that a 21-gene test done on the tumor can identify breast cancer patients who can safely avoid chemotherapy.
Antidepressants Plus Blood-Thinners Slow Down Brain Cancer
EPFL scientists have found that combining antidepressants with anticoagulants slows down brain tumors (gliomas) in mice.
Diagnostics Breakthrough Brings Viral Sequencing to Doctors’ Toolkit
New screening tool produces up to 10,000-fold improvement in viral matches compared with traditional high-throughput methods.
New Virus Identified In Blood Supply
Scientists have discovered a new virus that can be transmitted through the blood supply.

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,600+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos