Toward a faster prenatal test for Dow... (ow. The technique enabled researchers to...)

Toward a faster prenatal test for Down syndrome

Date:9/18/2007

ow. The technique enabled researchers to confirm the presence of abnormal chromosomes typical of Down syndrome with great accuracy.

Rapid testing alternatives already exist, but they are either too labor-intensive or not applicable to the whole population. The technique we present in this paper can overcome these limitations. It is rapid and simple. We estimate that the entire procedure from sample collection to result readout would take only a few hours, substantially reducing the anxiety of the expectant parents, Quake said.

The test is also potentially cheaper than other available methods and semi-automated, reducing the workload of lab personnel. And since the digital PCR technique is based on commercially available lab equipment, any interested physician could use it.

We are confident that it will work on clinical samples of amniotic fluid or chorionic villus, Fran said. The next step is to begin clinical trials to evaluate the sensitivity and specificity of the new test. The authors believe the new test could be available in as little as one year.

In addition, Quake cited the possibility that the method could lead to a blood test for Down syndrome. It would involve capturing fetal cells, which leak through the placenta and circulate in the mothers blood, and analyzing their DNA for abnormalities with digital PCR. Other research groups are also investigating a digital PCR-based Down syndrome test, he noted.

As a non-invasive test, it would be the safest approach to prenatal diagnosis of Down syndrome, since both amniocentesis and chorionic villus sampling pose risks to the fetus. Quake noted, however, that new techniques to separate the small fraction of fetal DNA in a mothers bloodstream must be developed before a blood test could be developed and tested.

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Contact: Michael Bernstein
m_bernstein@acs.org
202-872-4400
American Chemical Society
Source:Eurekalert

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