SAN DIEGO, Feb. 25, 2016 /PRNewswire/ -- Sequenom, Inc.,
(NASDAQ: SQNM), a life sciences company committed to enabling
healthier lives through the development of innovative products and
services, today announced the publication of a clinical validation
study on the MaterniT® GENOME laboratory-developed test in the
American Journal of Obstetrics and Gynecology.
The study, titled Clinical Validation of a Non-Invasive
Prenatal Test for Genome-Wide Detection of Fetal Copy Number
Variants (Lefkowitz, et al.), demonstrated high
resolution, sensitive and specific detection of a wide range of
sub-chromosomal and whole chromosomal abnormalities that were
previously only detectable by karyotype analysis of invasively
obtained samples. In some instances, genome-wide noninvasive
prenatal testing (NIPT) also provided additional clarification
about the origin of genetic material that had not been elucidated
by karyotype analysis.
"In 2011, Sequenom Laboratories pioneered cell-free DNA prenatal
testing with the first laboratory-developed NIPT for trisomy 21,
and we continued to innovate by adding content, such as other
aneuploidies and select microdeletions," said Dirk van den Boom, PhD, President and CEO of
Sequenom. "In 2015, we further evolved NIPT with the first
genome-wide test, MaterniT GENOME. The results published in this
clinical study reflect the diligent effort, expertise and
scientific process that went into validating the MaterniT GENOME
test."
The study compared the MaterniT GENOME test results for 1,166
clinical samples with results from analysis of invasively-obtained
amniocentesis or chorionic villus sampling (CVS) material. It
included 151 samples with common aneuploidies (trisomies 21, 18,
and 13 and sex chromosome aneuploidies), as well as 8 rare
aneuploidies and 35 subchromosomal abnormalities distributed across
the genome. The study demonstrated that the MaterniT GENOME test
was able to detect changes in copy number for full chromosomes, as
well as subchromosomal copy number changes as small as seven
megabases—a resolution comparable to traditional cytogenetic
karyotyping.
"The ability to non-invasively detect chromosomal and
subchromosomal abnormalities across the genome is critical in
clinical practice; abnormalities beyond the major trisomies (21,
18, and 13) and sex chromosome aneuploidies comprise more than 20%
of all karyotype-level abnormalities in the general obstetric
population," said Dr. van den Boom.
"The MaterniT GENOME test was designed to bridge this information
gap, and our clinical laboratory experience to date with over 6,000
MaterniT GENOME tests has in fact shown that approximately 25% of
samples with abnormal results had rare abnormalities across the
entire genome that would have been undetectable by other cfDNA
testing methods.*"
In this study, the MaterniT GENOME test showed:
- Sensitivity of >99.9% for trisomy 21 (CI 94.6-100%), trisomy
18 (CI 84.4-100%), trisomy 13 (CI 74.7-100%), and sex chromosome
aneuploidies (CI 84-100%)
- Sensitivity of 97.7% (CI 86.2-99.9%) for genome-wide copy
number variants other than trisomy 21, trisomy 18, trisomy 13, and
sex chromosome aneuploidies
- Specificity of 99.9% or greater (CI 99.4-100%) for all
chromosomes or chromosome regions analyzed
- Fetal sex classification accuracy of 99.6% (CI 98.9-99.8%)
"The MaterniT GENOME test has been extensively validated, both
analytically and clinically," said Dr. van
den Boom. "In addition to providing physicians and patients
the most comprehensive information from any NIPT available today,
the MaterniT GENOME test demonstrates Sequenom Laboratories'
commitment to leadership in the NIPT marketplace and women's
health."
The study may now be downloaded at:
http://www.ajog.org/article/S0002-9378(16)00318-5/pdf
* Fractions of detectable chromosomal and subchromosomal
abnormalities were derived from the specifications of the MaterniT
GENOME test and other widely used non-invasive prenatal tests,
coupled with prevalence information as documented in [Norton ME, et
al. Am J Obstet Gynecol. EPub 2015 Dec 18] and [Wellesley D., et al. Eur J Hum Genet. EPub 2012 Jan
11]
About Sequenom
Sequenom, Inc. (NASDAQ: SQNM) is a pioneering genetic testing
company dedicated to women's health through the development of
innovative products and services. The Company serves patients
and physicians by providing early patient management
information. For more information, visit
www.sequenom.com.
About Sequenom Laboratories
Sequenom Laboratories, a CAP-accredited and CLIA-certified
molecular diagnostics laboratory, has developed a broad range of
laboratory tests, with a focus principally on prenatal care.
Branded under the names HerediT®, MaterniT®,
NextView®, SensiGene® and
VisibiliT™, these molecular genetic laboratory-developed
tests provide early patient management information for
obstetricians, geneticists, and maternal fetal medicine
specialists. Sequenom Laboratories is changing the landscape in
genetic diagnostics using proprietary cutting edge technologies.
Visit www.laboratories.sequenom.com and follow @SequenomLabs.
SEQUENOM®, HerediT®,
MaterniT®, NextView®, SensiGene®,
VisibiliT™ and Sequenom Laboratories™ are
trademarks of Sequenom, Inc. All other trademarks and service marks
are the property of their respective owners.
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SOURCE Sequenom, Inc.