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New Test May Eliminate Downs Syndrome Disorder

NY Post

A new, simple way to detect Down syndrome in a fetus means the condition will be virtually extinct—but not without a great deal of controversy, experts say.

Last month, San Diego-based Sequenom released a test that allows doctors to screen for the most prevalent type of Down syndrome with only a blood test from the mother. The screening is available in 20 cities and is expected to hit New York soon. Two other companies have plans to release similar tests next year.

“What you end up having is a world without people with Down syndrome,” says Paul Root Wolpe, director of the center for ethics at Emory University. “And the question becomes is that a good thing or bad thing?”

Because the current methods of screening for Down syndrome, amniocentesis and chorionic villus sampling, carry a risk of inducing miscarriage, only about 2% of pregnant women in the nation undergo the screening, says Dr. Brian Skotko, of the Down syndrome program at Children’s Hospital Boston.

The safer prenatal screenings will likely mean more women will be tested, and the number of women carrying babies with Down syndrome who terminate their pregnancies could increase, if not skyrocket. Today, 92% of mothers who get a definitive diagnosis of Down choose to abort, surveys show.

“It’s a real conundrum,” Wolpe says. “Human beings have always tried to fight and cure disease, and this tool, projecting it forward 50 years when it’s powerful enough, will make a difference in eliminating those diseases in the world. It’s a tough call.