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Study Questions Genetic Screening for Treatable Diseases
Date:9/18/2007

In some cases, parents opt for abortion when symptoms may be mild, study finds

TUESDAY, Sept. 18 (HealthDay News) -- Some Israeli couples with fetuses that tested positive for Gaucher disease, an inherited condition that can range from mild and treatable to severe, chose abortions, raising questions about the use of certain types of genetic screenings, a new study suggests.

The study authors also question the use of genetic screening for other kinds of mild hereditary disorders.

Gaucher disease (GD) includes three diseases caused by deficient activity of a certain enzyme. Common type 1 Gaucher disease often causes no symptoms and is usually not severe and can be treated, the researchers said.

According to the National Gaucher Foundation, the most common symptoms of the disease are enlarged livers and spleens; anemia; reduced platelets that can result in easy bruising and clotting difficulties; bone "infarctions" that can lead to damage to the shoulder or hip joints; and a generalized "demineralization" of the bones, or osteoporosis. This can lead to spontaneous fractures.

Gaucher disease is relatively common in Ashkenazi Jews, who have been offered screening worldwide and in Israel since 1995, according to background information in the study.

But the use of this screening is controversial, because the test does not fully predict the severity of the disease. Even so, some couples decide to abort a fetus if it tests positive for Gaucher disease, the researchers noted in the Sept. 19 issue of the Journal of the American Medical Association.

In the study, a team led by Shachar Zuckerman of Shaare Zedek Medical Center in Jerusalem analyzed data from 10 Israeli medical centers that offered Gaucher disease screening. From January 1995 to March 2003, there were about 28,893 people screened at the centers. Of those, there were 83 GD carrier couples. The GD carrier frequency was 5.7 per
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