News24

Blood test reveals Down's syndrome

2011-03-07 11:34

New York - Scientists in Europe report they were able to diagnose Down's syndrome prenatally by giving a simple blood test to pregnant women, an approach that might one day help them avoid the more extensive procedure used now to detect the condition.

The preliminary report published online on Sunday in the journal Nature Medicine is the latest of several recent studies that suggest scientists can spot Down syndrome through foetal DNA that has been shed into the mother's bloodstream.

Down's syndrome, which results in cognitive delays, is caused by having an extra copy of a particular chromosome. Currently, pregnant women get blood tests and ultrasound to find out if the foetus is at risk for Down syndrome. For a firm diagnosis, doctors take a sample of amniotic fluid or the placenta.

Those sampling procedures involve a small risk of miscarriage. A reliable diagnostic blood test also could give an answer earlier than the standard tests.

Several research teams have published studies suggesting that analysing the mother's blood can detect Down syndrome in a foetus. There's no commercial test available yet, but at least one company hopes to introduce one in the US within about a year.

In the latest report, scientists in Cyprus, Greece and Britain said that in a blind test, they correctly identified 14 Down's syndrome cases and 26 normal foetuses.

They said a bigger study is needed to confirm the usefulness of their approach.

Comments
  • Pixie1984 - 2011-03-07 11:39

    jeez, 2 years too late. Amniosyntesis is horribley painful. well done blokes.

  • ? - 2011-03-07 12:18

    Many of these kids are loved dearly by their parents while others might be neglected or even abused.Therefore it would be a good idea to give parents the option to terminate the life of a kid that has down syndrome,or any other form of mental retardation.This option should also be extended to people who have full blown AIDS or final stages of cancer. Why should people be allowed to suffer?

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