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

  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

Business Wire

REDWOOD CITY, Calif. -- September 19, 2013

Illumina, Inc. (NASDAQ: ILMN) today announced Verinata Health, an Illumina
company, published additional peer-reviewed data^1 showing that Verinata’s
non-invasive verifi® prenatal test^2 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

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 values^3 for the test.”

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

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

^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
Press spacebar to pause and continue. Press esc to stop.