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New Technique to Test Chromosomal Abnormality from Blood Sample

by Gopalan on October 7, 2008 at 3:14 PM
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 New Technique to Test Chromosomal Abnormality from Blood Sample

A new technique has been developed to test chromosomal abnormality from blood samples, doing away with the need for aminocentesis. Thus Down' syndrome detection becomes that much easier.

Amniocentesis involves inserting a long needle through the mother's abdomen and drawing fluid from the womb.


The procedure carries a small risk of miscarriage or infection as well as being uncomfortable. Approximately one in 100 women who have the test will miscarry as a result, according to the Royal College of Obstetricians and Gynaecologists.

The new technique allowed scientists to pinpoint signs of chromosomal abnormality in a study of 18 pregnant women.

Down's syndrome occurs when a foetus has three copies of chromosome 21 instead of two. It can cause physical and intellectual impairments.

If a foetus has three copies of chromosome 21 rather than the normal two, there will also be a relative increase in the quantity of chromosome 21 in the mother's blood.

Professor Stephen Quake, from Stanford University, California, who led the new study, said: "Non-invasive testing will be much safer than current approaches.

"The earlier you know you've got a foetus with Down syndrome, the better able you are to prepare."

Carol Boys, chief executive of the Down's Syndrome Association, told BBC news: "There is no question that these non-invasive tests will be introduced in the next few years.

"It's therefore incredibly important that potential parents are given accurate information on Down's syndrome before they make a choice about whether to terminate or not.

"We don't consider Down's syndrome a reason for termination but we recognise that bringing up a child with Down's syndrome isn't right for everyone."

The research is reported in the journal Proceedings of the National Academy of Sciences.

Source: AFP


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