Study of Illumina’s Non-Invasive verifi® Prenatal Test Suggests that Test Results, When Discordant from Fetal Karyotyping,...
July 13 2015 - 3:05PM
Business Wire
-- Results Published in Journal of the
American Medical Association --
Illumina, Inc. (NASDAQ: ILMN) today announced that a preliminary
study retrospectively correlated 10 cases of occult maternal cancer
among pregnant women receiving an “aneuploidy detected” or
“aneuploidy suspected” positive results on the verifi® noninvasive
Prenatal Test (NIPT)1 to discordant results of fetal karyotypes for
the women, suggesting that discordant NIPT test results may be
indicative of maternal cancer.
Maternal cancers sometimes leave tell-tale abnormal cell free
DNA fragments in plasma. In 8 of 10 reported cancer cases, Illumina
scientists and physicians reviewed all the genome-wide sequencing
data and identified nonspecific copy-number changes across multiple
chromosomes, suggesting that these changes, when present in a woman
whose fetal karyotype tests as normal, might represent a signal to
the clinician to probe for the presence of cancer.
The results of the study, entitled “Noninvasive Prenatal Testing
and Incidental Detection of Occult Malignancies,” are available
online today in The Journal of the American Medical Association and
the full article can be accessed at broadcast.jamanetwork.com. The
paper will be included in the July 14 print edition of JAMA.
“Abnormal tumor DNA, shed from maternal malignancies, can cause
highly unusual NIPT results, including the findings of more than
one chromosome abnormality detected,” commented Diana W. Bianchi,
M.D., Executive Director of the Mother Infant Research Institute at
Tufts Medical Center, and lead author of the publication. “All
abnormal NIPT results should be confirmed with a diagnostic test,
such as amniocentesis or chorionic villus sampling (CVS). If there
is a difference between the fetal diagnostic test and the NIPT
results, maternal cancer can be a rare but important underlying
explanation. In order to provide the best maternal clinical care,
this possibility should be considered, especially when multiple
abnormalities of chromosome number are identified on the NIPT
report.”
In a retrospective analysis of 125,426 noninvasive verifi®
Prenatal Tests, 3,757 (three percent) were positive for one or more
aneuploidies involving chromosomes 13, 18, 21, X or Y. As part of
Illumina’s standard procedures, the laboratory contacts the
referring physician to discuss all positive test results and to
recommend a diagnostic procedure to obtain a confirmatory fetal
karyotype. From this group of 3757 positive cases, 10 cases of
maternal cancers were subsequently (between 3 and 39 weeks after
NIPT) reported to the laboratory. At the time of NIPT these women
were not diagnosed with cancer. In 3 cases the abnormal NIPT
findings prompted a search for an underlying malignancy. Seven of
these eight women had diagnostic tests that indicated a
chromosomally-normal fetus, discordant with the NIPT test result.
One woman did not undergo a diagnostic procedure.
Maternal cancers were most frequently associated with the rare
NIPT finding of multiple aneuploidies that were discordant with the
fetal karyotype. The cancer types were clinically diverse,
including three cases of B cell lymphoma and single cases of T-cell
leukemia, Hodgkin’s lymphoma, unspecified adenocarcinoma,
leiomyosarcoma, and neuroendocrine, colorectal and anal carcinomas.
The cancers ranged from stage II to metastatic disease (IV). In one
case, after completion of treatment, the abnormal DNA signature
became undetectable in follow-up testing.
“This study shows that NIPTs that use whole genome sequencing
techniques may have the ability to detect some cancer signatures
under certain conditions,” said Dr. Rick Klausner, Illumina’s Chief
Medical Officer. “The sensitivity and specificity of the verifi
Prenatal Test to detect cancer is not currently known, and further
studies will be required to develop a test for this specific
purpose. We have published these results to help clinicians improve
overall patient care by considering the possibility of maternal
cancer if there is discordance between positive NIPT results and a
normal fetal karyotype. We also want to encourage health care
providers to contact the clinical sequencing laboratory with
follow-up information on abnormal NIPT results that show
concordance as well as discordance with fetal karyotype, including
cancers diagnosed in pregnant women, so that we can better
understand the nonspecific patterns of DNA changes that precede
clinical symptoms.”
About the verifi® Prenatal Test
The Illumina verifi® Prenatal Test analyzes genetic
material (cfDNA) from a pregnant woman’s blood to look for too few
or too many copies of chromosomes in the mother and baby, or babies
in the case of twins. Missing or extra copies of chromosomes are
referred to as “aneuploidies” and may be related to conditions in
pregnancy such as trisomy 21 (Down syndrome), trisomy 18 (Edwards
syndrome), trisomy 13 (Patau syndrome) or sex chromosome (X and Y)
associated conditions.
About Illumina
Illumina is improving human health by unlocking the power of the
genome. Our focus on innovation has established us as the global
leader in DNA sequencing and array-based technologies, serving
customers in the research, clinical and applied markets. Our
products are used for applications in the life sciences, oncology,
reproductive health, agriculture and other emerging segments. To
learn more, visit www.illumina.com and follow @illumina.
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 The verifi® prenatal test is a non-invasive blood test that
analyzes DNA found in a pregnant woman’s blood to detect the most
common 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.
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Illumina, Inc.Investors:Rebecca Chambers,
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