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Researchers Caution Against Fetal Testing for Non-life-threatening Diseases

by Gopalan on September 20, 2007 at 3:07 PM
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Researchers Caution Against Fetal Testing for Non-life-threatening Diseases

If in India female feticide is a raging issue, elsewhere in the world couples tend to go in for termination of pregnancies on the slightest suspicion of diseases.

US researchers reported Tuesday that some couples chose to terminate pregnancies even though the mutation carried by their fetus probably would not have resulted in serious health problems.


The researchers, from several medical centers in Israel, analyzed information about Gaucher disease, a genetic condition whose symptoms range from severe to nonexistent. It occurs mainly in Ashkenazi Jews, or those of Eastern or Central European descent.

Experts say the new findings, published in this week's Journal of the American Medical Association, raise questions about the appropriateness of screening for treatable or nonlife-threatening diseases — a practice that is likely to increase as scientists continue to discover the function of individual genes.

Already, pregnant Ashkenazi women are usually screened for a battery of genetic diseases, including Tay Sachs, which invariably leads to extreme disability and early death. But the typical "Jewish panel" also includes some less serious conditions, such as Gaucher (pronounced go-SHAY).

Expert committees in the U.S., Canada and Israel have all recommended against screening for Gaucher, yet the test continues to be offered routinely, doctors confirmed Tuesday.

"Why do we bundle them all in one panel? Because we can," said Dr. Lainie Friedman Ross, a professor of clinical ethics at the University of Chicago. "Should we? Not yet. Not when we can't know which individuals with Gaucher will be significantly affected and which won't."

Gaucher disease is caused by an enzyme deficiency that can lead to enlarged livers or spleens, anemia, bleeding and occasionally bone disease. In extremely rare cases it can result in progressive neurological problems.

Led by Shachar Zuckerman of Hebrew University-Hadassah Medical School in Jerusalem, the Israeli researchers searched records of genetic centers between 1995 and 2003 and found 82 "carrier couples" whose children risked being born with Type 1 Gaucher disease, the most common and mildest form.

Three-quarters of the couples had prenatal diagnosis performed when they got pregnant, and 16 affected fetuses were identified. Four of the 16 were aborted.

The researchers found that carrier couples were less likely to terminate their pregnancies if they were counseled by a specialist in Gaucher disease in addition to a genetic counselor.

Only one of 13 couples who met with a Gaucher expert chose to abort, compared with three out of three couples with no medical counseling.

Dr. Joel Charrow of Children's Memorial Hospital in Chicago, who treats patients with Gaucher disease and counsels carrier couples, said he doesn't know of any terminations among parents he spoke with about the condition.

"I don't tell people what they should do," Charrow said. "But after I tell them my experience in treating people with Gaucher, they're comfortable with that."

Ross agrees that consumer education is crucial.

"The fact that people are aborting for such a mild, benign condition is worrisome," she said.

"I suppose some may not feel it's so mild or benign. But my fear is that people don't understand. When you put Tay Sachs in the same bundle, a layperson has to think, 'There's a reason you're testing for both.' ... I think it requires a lot more education."

Ross said the "Jewish panel" should be disassembled. "I could still go in and ask to be tested for Gaucher," she said. "But once you've bundled it, you've told consumers it's important."

Source: Medindia

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