Holy Grail of Prenatal Diagnosis One Step Closer

From: art fougner, md (evsono@pipeline.com)
Tue Oct 7 08:34:07 2008


For three decades, scientists have been trying to develop a noninvasive prenatal test for Down syndrome that would replace amniocentesis, which can cause miscarriages.

Now, scientists using powerful genetic techniques are closing in on that goal with tests that require only a blood sample from the pregnant woman.

A biotechnology company in San Diego called Sequenom says it will begin selling such a test next June. Another testing technique, developed at Stanford, is described in a paper published online Monday in The Proceedings of the National Academy of Sciences.

There are reasons to be cautious. The Stanford test has been tried on only 18 blood samples. Sequenom has tried its test on only about 400 samples and has not yet published its results in peer-reviewed journals.

Still, both tests have perfect records so far: no false negatives or false positives. “This is quite simply a major step forward, if it works at all like we expect it might,” Jacob A. Canick, a professor of pathology at Brown, said of the Sequenom test at a recent meeting the company held for its investors.

http://www.nytimes.com/2008/10/07/health/research/07down.html?_r=1&ref=health&pagewanted=all

Art

--
art fougner, md
"May The Wings of Liberty Never Lose a Feather." - Jack Burton



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