New genetic test provides precise, yet hazy results

Posted: November 17, 2012 at 2:41 pm

A patient receives an ultrasound before a new genetic test for potential fetus abnormalities Oct. 4 at obstetrician Susan Klugman's office in Scarsdale, N.Y.(Photo: Carucha L. Meuse, The (Westchester, N.Y.) Journal News)

WESTCHESTER, N. Y. -- A new test, called chromosomal microarray technology, is providing doctors and prospective parents with more information than ever before about the genetic makeup of a baby still in the womb.

But what that knowledge actually means is not always clear, causing confusion and anxiety for parents and physicians.

Michelle Catalano had no reason to think her fourth baby wouldn't be born as healthy as her other three.

But because the Eastchester, N.Y., resident was 36 -- a year into the territory obstetricians ominously describe as "advanced maternal age" -- she was given the option of using the new technology to test whether her baby was developing free of genetic defects that could signal trouble.

"It's an evolving technology," said David Kronn, chief of medical genetics at Maria Fareri Children's Hospital at Westchester Medical Center in Valhalla, N.Y. The results, he said, aren't always cut and dried.

Susan Klugman, an obstetrician in Larchmont and Yonkers, N.Y., and 300 of her patients recently took part in a nationwide study of chromosomal microarray technology to determine how effective the method is.

"This zooms down and looks at the specific genetic material in the chromosomes to make sure nothing is missing or nothing is extra," said Klugman, director of reproductive genetics at Montefiore Medical Center and an associate professor at Albert Einstein College of Medicine.

Initial results of the study submitted early this year at the Society for Maternal-Fetal Medicine showed that prenatal chromosomal microarray technology can detect more genetic abnormalities than current methods.

Klugman now offers the test to select patients in her practice.

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New genetic test provides precise, yet hazy results

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