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July 2, 2010

Blood test for Down's syndrome

Rebecca Smith:

The new test works by extracting the DNA of the foetus from the mother's blood and screening it for Down's syndrome and other abnormalities.

At present, pregnant women are given the odds on whether they are carrying a child with Down's syndrome, and if they want to know for certain they have to undergo one of two invasive processes; either amniocentesis or chorionic villus sampling. The first involves taking a sample of fluid from around the foetus and can, in some cases, cause a miscarriage even if the woman is carrying a healthy foetus. The second requires taking a fragment of the placenta.

The new test involves the same equipment needed for amniocentesis testing, but uses blood instead of amniotic fluid and is not invasive.

So far, researchers have been able to prove the technique works in principle and have described the results as "promising". They hope to use the same method to detect other abnormalities in an unborn child's DNA such as Edwards' syndrome, which causes structural malformations in the foetus, and Patau's syndrome, which can result in severe physical and mental impairment and is often fatal.

Posted by Jim Zellmer at July 2, 2010 1:23 AM
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