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

NEW YORK (August 21, 2013) Reproductive genetics researchers at Columbia University Medical Center (CUMC) are leading a multicenter prospective clinical study investigating the effects of chromosomal abnormalities (duplicative or missing material) found prenatally through microarray analysis. The goal of the study is to gain further information on genetic variances previously not well reported in the medical literature and share it with parents during pregnancy.

Led by principal investigator Ronald J. Wapner, MD, professor and vice chair for research at CUMC's Department of Obstetrics and Gynecology and director of reproductive genetics at NewYork-Presbyterian Hospital/Columbia, the research is the next phase of a project to advance clinicians' ability to diagnose in utero conditions such as developmental delays, structural abnormalities, and treatable or life-threatening diseases.

"Parents of children found to have a genetic variance want a better understanding of what it means. Our goal is to give them as much information and support as possiblefrom detailed genetic counseling to ways to connect with other people expecting children with the same variance," said Dr. Wapner.

In December 2012, Dr. Wapner and colleagues published in the New England Journal of Medicine (NEJM) findings of a trial involving 4,400 patients at 29 centers nationwide. That study showed that microarray analysis of a fetus's DNA gave significantly more clinically relevant information than the standard method of analysis, known as karyotypinga visual analysis of the fetus's chromosomes. [Click here for a news release about that study.]

In the current studywhich has ongoing clinical recruitmentdata on babies included in the NEJM article will be augmented by data on patients recruited by 10 major prenatal diagnostic centers around the country that offer microarray to all their patients. Each center aims to recruit 1,000 patients. Of the anticipated 10,00
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Contact: Elizabeth Streich
eas2125@cumc.columbia.edu
212-305-3689
Columbia University Medical Center
Source:Eurekalert

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