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Company Has Postive Findings in Testing for Down’s Syndrome


Aired 4/19/09

 A San Diego company called Sequenom announced more positive trial results for its prenatal exam for Down's Syndrome. KPBS Reporter Tom Fudge has more.

Testing your unborn baby for Down's Syndrome has, until now, required amniocentesis. That procedure requires doctors to pierce a woman's uterus with a needle to withdraw and test amniotic fluid.

The prenatal test developed by Sequenom involves a simple blood test that, so far, appears to be very accurate. Harry Stylli is the company's CEO. He says the company's latest R&D trials examined 858 pregnant women, and identified among them 28 cases of Down's.

Stylli: And there were no false negatives and there was only one false positive. That's how are test works. You're not dealing with risk factors anymore, right. You're absoluately going down to the genetic crux of the equation.

He says the non-invasive genetic test seems to be as accurate as amniocentesis and could, one day, take its place. Tom Fudge, KPBS News

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