Verinata Health Peer-Reviewed Publication Shows Circulating Cell-Free Fetal DNA Fractions Differ in


Verinata Health Peer-Reviewed Publication Shows Circulating Cell-Free Fetal DNA Fractions Differ in Specific Aneuploidies

Accuracy and Reliability of verifi® Prenatal Test Result from Superior Sequencing Depth

REDWOOD CITY, Calif.--(BUSINESS WIRE)-- Illumina, Inc. (NAS: ILMN) today announced Verinata Health, an Illumina company, published additional peer-reviewed data1 showing that Verinata's non-invasive verifi® prenatal test2 correctly detects aneuploidies across all test samples, even for patients with very low fetal fractions (cell-free DNA fragments in maternal blood contributed from the fetus). The publication also documented that fetal fractions are different for pregnancies where the fetus has Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and other aneuploidies analyzed by the verifi® prenatal test.

"This publication validates that the Verinata Health approach to non-invasive prenatal testing based on deeper sequencing delivers highly accurate results regardless of the variation in fetal fraction across test samples," said Jeffrey Bird, General Manager of Verinata Health. "Additionally, Verinata Health's testing methodology results in a failure rate of less than one percent and the industry's fastest turnaround time of three to six business days."

The authors of the publication demonstrated that fetal fraction varies between different chromosomal aneuploidies. Fetuses with trisomy 21 have a higher fetal fraction when compared to fetuses without aneuploidy, whereas fetuses with trisomy 18, trisomy 13 (Patau syndrome) and monosomy X (Turner syndrome) have lower fetal fractions. The authors showed that by sequencing a larger number of fragments (~23 million DNA fragments per sample in the verifi® prenatal test), samples with lower fetal fractions are correctly classified.

"Verinata sequences more DNA fragments than any other provider, delivering reliable results with the verifi® prenatal test, regardless of the variation in fetal fraction," said Richard Rava, Verinata's Vice President of Research and Development. "In clinical practice we continue to see consistent, exceptionally high positive and negative predictive values3 for the test."

This study analyzed the fetal fraction of 324 maternal blood samples from the MatErnal bLood ISSource to Accurately detect fetal aneuploidy (MELISSA) study.4

About Verinata Health
Verinata (, a wholly-owned subsidiary of Illumina, Inc., is driven by a sole, extraordinary purpose - maternal and fetal health. Our initial focus is to develop and offer non-invasive tests for early identification of fetal chromosomal abnormalities using our proprietary technologies. We aim to reduce the anxiety associated with today's multi-step process, the unacceptable false-positive rates, the non-specific and sometimes confusing results of current prenatal screening methods, as well as the risk of current invasive procedures. We support national guidelines and the recent American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine Committee Opinion recommending cell-free DNA prenatal testing is one option that can be used as a primary or secondary screening test in women at increased risk of aneuploidy. We believe women who desire such testing should be offered a single blood draw test with a definitive result. The verifi® prenatal test is available through a physician.

About Illumina
Illumina ( is a leading developer, manufacturer, and marketer of life science tools and integrated systems for the analysis of genetic variation and function. We provide innovative sequencing and array-based solutions for genotyping, copy number variation analysis, methylation studies, gene expression profiling, and low-multiplex analysis of DNA, RNA, and protein. We also provide tools and services that are fueling advances in consumer genomics and diagnostics. Our technology and products accelerate genetic analysis research and its application, paying the way for molecular medicine and ultimately transforming healthcare.

Forward-Looking Statements
This release may contain forward looking statements that involve risks and uncertainties. Important factors that could cause actual results to differ materially from those in any forward-looking statements are detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We do not intend to update any forward-looking statements after the date of this release.

1 Rava R, et al. "Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X." Clinical Chemistry, in press (available at

2 The verifi® prenatal test is a non-invasive blood test that analyzes DNA found in a pregnant woman's blood to detect fetal chromosome abnormalities, including Down syndrome (trisomy 21 or T21), Edwards syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13) and sex chromosome abnormalities.

3 Futch T, et al. "Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples." Prenatal Diagnosis. 33.6 (2013): 569-574.

4 Bianchi DW, et al. "Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing." Obstetrics & Gynecology. 119.5(2012): 890-901.

Illumina, Inc.
Rebecca Chambers, 858-255-5243
Jennifer Temple, 858-882-6822

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