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Trial aims to advance prenatal diagnosis of genetic defects
Date:8/21/2013

0 or so microarray analyses, the researchers aim to follow 300600 children born with genetic variances, for at least three years. (See below for more about microarray.)

"While the majority of abnormalities found with microarray are associated with known conditions, in many cases the full implications of findings are not well understood, and about 1.5 percent are unidentified. The goal is to fill in these knowledge gaps," said Dr. Wapner. "Ours is the only study of its kind that is identifying genetic variances in utero and following the kids over time to see how the abnormalities present and to gather as much clinical information about them as possible, such as the severity of problems and life expectancy."

"When we counsel parents now, we can give them only limited information, drawn from what we know about children who have undergone genetic testing. But these children often represent the severe end of the spectrum," said Dr. Wapner. "There might be people who, because they had no symptoms, were never identified as having a variance, limiting the prognostic information we are able to give parents."

NewYork-Presbyterian/Columbia is the primary recruitment center. The other centers participating in the study are: the Center for Fetal Medicine, Northwestern University, Cedars Sinai Medical Center, San Francisco Perinatal, Carnegie Hill Imaging, Montefiore Medical Center, Mount Sinai Medical Center, Lenox Hill, and North Shore LIJ.

A majority of the labs in the country that do prenatal microarray have agreed to refer patients to the website, where they will be able to self-enroll in the study. "We hope to capture almost all the available microarray data," said Dr. Wapner.

Website to Collect, Share Information in Real Time with Parents, Clinicians

Trial data will be collected and shared in real time with parents and clinicians via the website http://www
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Contact: Elizabeth Streich
eas2125@cumc.columbia.edu
212-305-3689
Columbia University Medical Center
Source:Eurekalert

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