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Down's Syndrome in Pregnant Women Identified Through Simple, Non-invasive Test

by Rathi Manohar on July 2, 2010 at 3:11 PM
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Down's Syndrome in Pregnant Women Identified Through Simple, Non-invasive Test

Down's syndrome in pregnant women could be identified through a simple non-invasive blood test, claim researchers who decry the current amniocentesis test with its risk of miscarriage.

But Dutch researchers told a fertility conference that they are on the verge of developing an accurate way of testing the mother's blood for chromosome disorders in the foetus.


The test is based on a series of "probes" that attach to specific points on a chromosome.

It is the same technique that is already used to detect problems in foetal DNA in samples taken from the amniotic fluid in the womb.

But the advantage of testing the mother's blood is that it is non-invasive, quick and carries no risks for the foetus.

Delegates at the conference heard that the team have so far successfully identified the male or Y chromosome from the foetus in the mother's blood, proving their technique works.

And they said that the test can be used as early as six-to-eight weeks,.

They are now using the same principle to develop probes to detect the extra chromosome found in Down's syndrome.

It will be tested in women at high risk of an abnormal pregnancy and so already undergoing prenatal screening and invasive tests.

If proven to be accurate, the researchers hope that all women will have access to the blood test within a few years.

Study leader Dr Suzanna Frints, a clinical geneticist at Maastricht University Hospital, says the test could eventually be available for as little as 25 pounds.

Professor Stephen Robson, spokesman for the Royal College of Obstetricians and Gynaecologists, said there are a number of labs around the world working on different techniques for such diagnostic tests.

"It is the holy grail of prenatal diagnosis to try and find a reliable method of diagnosing Down's syndrome and other chromosome abnormalities without doing invasive testing," the BBC quoted him as saying.

The details of the test were presented at the European Society of Human Reproduction and Embryology.

Source: ANI


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