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Miscarriage clues identified in new DNA test according to researchers at Montefiore and Einstein
Date:3/19/2014

New research shows an alternative DNA test offers clinically relevant genetic information to identify why a miscarriage may have occurred years earlier. Researchers were able to identify chromosomal variants and abnormalities in nearly 50 percent of the samples. This first-of-its-kind study was conducted by researchers from Montefiore Medical Center and the Albert Einstein College of Medicine of Yeshiva University. The results were published in the March issue of Reproductive Biology and Endocrinology.

The technique used in this study, called rescue karyotyping, allows physicians to obtain important genetic information from tissue that had not been tested at the time of the miscarriage. As part of standard hospital protocol, tissue from miscarriages is embedded in paraffin for archival use and the karyotyping test is performed on DNA extracted from this tissue.

In this retrospective study of 20 samples from 17 women, genetic testing was successfully performed on 16 samples that had been archived for as long as four years. Of those samples, eight showed chromosomal variants and abnormalities. This is an important alternative when conventional karyotyping is not available or cannot be used for a specific sample.

"Given the ease of obtaining results, even if a delay in testing occurs, this new test may provide a useful technique to gain a better understanding as to why miscarriage occurs in some women," said Zev Williams, M.D., Ph.D., director, Program for Early and Recurrent Pregnancy Loss (PEARL), Montefiore and Einstein, assistant professor of obstetrics & gynecology and women's health and of

Contact: Deirdre Branley
sciencenews@einstein.yu.edu
718-430-3101
Albert Einstein College of Medicine
Source:Eurekalert

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