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

.prenatalarray.org, where expectant parents undergoing testing can learn how microarray works and what it looks for; parents of a child with a variance can find information about their baby's variance and connect with other parents of babies with the same variance; and physicians, genetic counselors, and other clinicians can input and research real-time information on the clinical impact of the variance.

"We will link genetic anomalies with structural abnormalitiesconnecting the genotype (the genetics, or errors) with the phenotype (what you see)," said Dr. Wapner. "This will help us to better understand the basis of birth defectsthings that run together, what genes to look for, and so on."

Software to better categorize ultrasound findings and relate them to the phenotype is provided by a genetics software-as-a-service company called Cartagenia, a collaborator on this work. As medical science continues to advance, Dr. Wapner and his colleagues hope and expect that this data pool (and web tracking system) will continue to improve genetic surveillance.

A web-based portal designed and hosted by David Ledbetter, PhD, and W. Andrew Faucett, MS, collaborators at Geisinger Health System in Danville, Pa., enables secure two-way communication with patients. This allows researchers to conduct surveys about patients' attitudes and opinions about testing; it can also help them to understand how the patients dealt with learning that their child has a genetic variance.

More About Microarray

Microarray requires fetal cells obtained through an invasive procedure (offered to high-risk pregnant women), such as amniocentesis, in which fetal cells are taken from the amniotic fluid, or chorionic villus sampling, in which cells are taken from the placenta. Pregnant women are deemed high risk if they have advanced maternal age (age 35 or older) or if their fetuses are shown through early screening to be at increased risk for Dow
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Contact: Elizabeth Streich
eas2125@cumc.columbia.edu
212-305-3689
Columbia University Medical Center
Source:Eurekalert

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