Loading...
Loading...
CombiMatrix Corporation
, a molecular diagnostics company performing DNA-based testing
services for developmental disorders and cancer diagnostics, today announced
that a pair of studies published in a leading journal favor chromosomal
microarray analysis (CMA) over traditional karyotyping for genetic prenatal
diagnosis and genetic evaluation of stillbirths. The two large studies,
published in the current edition of the New England Journal of Medicine,
represent the largest head-to-head studies comparing CMA to traditional
karyotyping. Both concluded that CMA identified additional, clinically
significant genetic abnormalities compared to karyotyping in both the prenatal
diagnostic setting as well as the evaluation of stillbirths.
Ronald Wapner, M.D., one of the nation's leading clinicians in the field of
reproductive genetics and the lead author of the prenatal diagnosis study and
a co-author on the stillbirth study, has called for CMA to replace
karyotyping, which has been the traditional standard of care for these tests.
Wapner is the Director of Reproductive Genetics at New York Presbyterian
Hospital/Columbia University Medical Center, and the Vice Chairman of Research
and Professor of Obstetrics and Gynecology at Columbia College of Physicians
and Surgeons.
While Wapner noted that the transition to CMA from karyotyping in clinical
practice will be gradual, as physicians and patients continue to be educated
about its use, the two studies make the choice clear: "Why would anyone want
to continue to use the standard method, which gives only part of the answer?"
Dr. Wapner said in a statement published earlier this year by the New York
Presbyterian and Columbia University Medical Center.
The larger of the two studies, entitled "Chromosomal Microarray Versus
Karyotyping for Prenatal Diagnosis," enrolled 4,406 women. In 4,340 (98.8
percent) of the fetal samples, microarray analysis was successful. The second
study, entitled "Karyotype Versus Microarray Testing for Genetic Abnormalities
After Stillbirth," 532 stillbirths were analyzed. That study concluded that
"microarray analysis is more likely than karyotype analysis to provide a
genetic diagnosis, primarily because of its success with nonviable tissue, and
is especially valuable in analyses of stillbirths with congenital anomalies…"
Both studies were funded by the Eunice Kennedy Shriver National Institute of
Child Health and Human Development—part of the National Institutes of Health
(NIH).
Loading...
Loading...
© 2024 Benzinga.com. Benzinga does not provide investment advice. All rights reserved.
Benzinga simplifies the market for smarter investing
Trade confidently with insights and alerts from analyst ratings, free reports and breaking news that affects the stocks you care about.
Join Now: Free!
Already a member?Sign in