Prenatal gene testing spots far more fetal defects, study finds; results could spur wider use

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Associated Press

Posted on December 6, 2012 at 12:30 AM

Updated Thursday, Dec 6 at 12:30 AM

NEW YORK (AP) — Researchers say gene testing in early pregnancy reveals far more about potential health risks than current prenatal testing.

A study published in Thursday's New England Journal of Medicine finds a surprisingly high number — 6 percent — of certain fetuses declared normal by conventional testing were found to have genetic abnormalities by gene scans. The gene flaws can cause anything from minor defects such as a club foot to more serious ones such as mental retardation, heart problems and fatal diseases.

The lead researcher says the testing "isn't done just so people can terminate pregnancies." Dr. Ronald Wapner of Columbia University Medical Center in New York says such tests allow doctors to provide women more information about what's causing the problem, what the prognosis is and what special care their child might need.

A second study in the journal found that gene testing could reveal the cause of most stillbirths, many of which remain a mystery now. That could give couples agonizing over whether to try again more information to make a decision.

Sound:

282-w-37-(Diane Kepley, AP correspondent, with Dr. Ronald Wapner, director of reproductive genetics, Columbia University)--The stage has been set for wider use of genetic testing early in pregnancies. AP correspondent Diane Kepley reports. (5 Dec 2012)

<<CUT *282 (12/05/12)>> 00:37

283-a-13-(Dr. Ronald Wapner, director of reproductive genetics, Columbia University, in AP interview)-"we could see"-Lead researcher Dr. Ronald Wapner says digging deeper into the DNA of a fetus can give doctors more information about birth defects and learning disabilities. (5 Dec 2012)

<<CUT *283 (12/05/12)>> 00:13 "we could see"

285-a-12-(Dr. Ronald Wapner, director of reproductive genetics, Columbia University, in AP interview)-"better the prognosis"-Lead researcher Dr. Ronald Wapner says more detailed genetic information could lead to earlier treatment for some disorders. ((cut used in wrap)) (5 Dec 2012)

<<CUT *285 (12/05/12)>> 00:12 "better the prognosis"

284-a-09-(Dr. Ronald Wapner, director of reproductive genetics, Columbia University, in AP interview)-"pregnancy may be"-Lead researcher Dr. Ronald Wapner says this more detailed kind of testing could give pregnant women more information about potential medical issues facing their babies and possible treatments. (5 Dec 2012)

<<CUT *284 (12/05/12)>> 00:09 "pregnancy may be"

286-a-08-(Dr. Ronald Wapner, director of reproductive genetics, Columbia University, in AP interview)-"are equally important"-Lead researcher Dr. Ronald Wapner says whether the fetus is tested is a decision that should be left to a woman and her doctor. (5 Dec 2012)

<<CUT *286 (12/05/12)>> 00:08 "are equally important"

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