PerkinElmer and Women & Infants Hospital of Rhode Island Launch Trial to Evaluate Performance Characteristics for High-Volume Non-Invasive Prenatal Testing Platform

International Conference on Prenatal Diagnosis and Therapy (ISPD),
Booth #15–PerkinElmer,
Inc., a global leader committed to innovating for a healthier world,
today announced a collaboration with Women
& Infants Hospital (WIH) of Rhode Island, a Care New England
hospital, to evaluate an innovative test method using the Vanadis®
NIPT system, PerkinElmer’s Vanadis NIPT system is under
development and not available for clinical use in the United States.

Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) has
become the standard follow-up procedure for women classified as high
risk following traditional prenatal screening and other national
guidelines indicating risk for aneuploidy. Unlike existing NIPT
technologies which require more complex platforms such as sequencing or
microarrays, the Vanadis NIPT platform is the first of its kind designed
to simplify screening for trisomies 21 (Down syndrome), 18 (Edwards
syndrome) and 13 (Patau syndrome). This cost-effective, high-throughput
scalable platform measures fetal chromosomal trisomies in maternal
plasma by labeling and counting specific cfDNA fragments using imaging
— removing the costly and data-intensive steps required for sequencing
or microarray solutions.

The VALUE (Validation of a Lower Cost Aneuploidy Screen) study
is funded through a contract with Women & Infants Hospital, but the
design, implementation, analyses and reporting is the sole
responsibility of the study staff at Women & Infants. The research study
aims to test samples from approximately 2,650 women, most from an
average risk pregnancy population, with additional high-risk cases added
to determine performance characteristics such as detection rates and
false positive rates. Turnaround time, associated costs, fetal sex
determination, and quality metrics will also be examined. Women &
Infants will serve as the primary study center and laboratory site.
Fourteen enrollment sites
across North America are currently participating in the VALUE study.

“All pregnant women should have access to reliable, low-cost NIPT as a
follow-up to aneuploidy screening, but this has not previously been
possible, as the current approaches are complex, have limited capacity
and require the expertise of specialized genetic laboratories,” said
Linh Hoang MD, PhD, Vice President, Reproductive Health, PerkinElmer.
“By incorporating novel technology and analytics, the Vanadis assay has
the potential to fundamentally change the cost structure and workflow
for NIPT and give more women access to cfDNA screening. Our solution is
designed to make it simpler for any laboratory to provide high-precision
NIPT with a fully automated platform that they can integrate into their
current screening programs and workflow.”

“We believe that it is important that prenatal screening be under local
laboratory control rather than concentrated in a few large commercial
laboratories. The Vanadis technology requires less upfront investment as
well as non-specialized laboratory space and technicians. It has the
potential to be as efficient as current next generation sequencing
offerings, yet could be cost-competitive with current serum-based
screening,” said Glenn Palomaki, PhD, associate director of the Division
of Medical Screening and Special Testing at Women & Infants Hospital and
professor in the Department of Pathology and Laboratory Medicine at The
Warren Alpert Medical School of Brown University.

PerkinElmer obtained the proprietary NIPT technology through its acquisition
of Vanadis Diagnostics, AB. A research
study, “Imaging Single DNA Molecules for High Precision NIPT,”
recently published Nature Scientific Reports described the
Vanadis NIPT technology and presented data on the feasibility of
applying the assay for detection of fetal trisomy 21 in maternal plasma.

“Our group at Women & Infants has been offering prenatal screening for
more than 30 years and has been a leader in identifying new
methodologies and subsequently introducing them into routine prenatal
care practices. This study may provide a pathway to continuing to offer
the best testing available to all pregnant women,” said Geralyn
Lambert-Messerlian, PhD, director of the Division
of Medical Screening and Special Testing at Women & Infants and a
professor in the Departments of Pathology and Laboratory Medicine and
Obstetrics and Gynecology at The Warren Alpert Medical School of Brown
University.

For more information on the Vanadis NIPT system, please visit www.vanadisdx.com,
or stop in at PerkinElmer’s booth #15 at ISPD, July 8-11, 2018.

About PerkinElmer

PerkinElmer, Inc. is a global leader committed to innovating for a
healthier world. Our dedicated team of about 11,000 employees worldwide
is passionate about providing customers with an unmatched experience as
they help solve critical issues especially impacting the diagnostics and
discovery and analytical solutions markets. Our innovative detection,
imaging, informatics, and service capabilities, combined with deep
market knowledge and expertise, help customers gain earlier and more
accurate insights to improve lives and the world around us. The Company
reported revenue of approximately $2.3 billion in 2017, serves customers
in more than 150 countries, and is a component of the S&P 500 Index.
Additional information is available through 1-877-PKI-NYSE, or at www.perkinelmer.com.

About Women & Infants Hospital

Women & Infants Hospital of Rhode Island, a Care New England hospital,
is one of the nation’s leading specialty hospitals for women and
newborns. A major teaching affiliate of The Warren Alpert Medical School
of Brown University for obstetrics, gynecology and newborn pediatrics,
as well as a number of specialized programs in women’s medicine, Women &
Infants is the ninth largest stand-alone obstetrical service in the
country and the largest in New England with approximately 8,500
deliveries per year. A Designated Baby-Friendly® USA
hospital, U.S. News & World Report 2014-15 Best Children’s
Hospital in Neonatology and a 2014 Leapfrog Top Hospital, in 2009 Women
& Infants opened what was at the time the country’s largest,
single-family room neonatal intensive care unit.

Women & Infants and Brown offer fellowship programs in gynecologic
oncology, maternal-fetal medicine, urogynecology and reconstructive
pelvic surgery, neonatal-perinatal medicine, pediatric and perinatal
pathology, gynecologic pathology and cytopathology, and reproductive
endocrinology and infertility. It is home to the nation’s first
mother-baby perinatal psychiatric partial hospital, as well as the
nation’s only fellowship program in obstetric medicine.

Women & Infants has been designated as a Breast Imaging Center of
Excellence by the American College of Radiography; a Center of
Excellence in Minimally Invasive Gynecology; a Center of Biomedical
Research Excellence by the National Institutes of Health (NIH); and a
Neonatal Resource Services Center of Excellence. It is one of the
largest and most prestigious research facilities in high risk and normal
obstetrics, gynecology and newborn pediatrics in the nation, and is a
member of the National Cancer Institute’s Gynecologic Oncology Group and
the Pelvic Floor Disorders Network.

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