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Simple Test Could Detect Down's Syndrome

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WebMD Health News

Nov. 21, 2000 -- Doctors have shown they can detect Down's syndrome at an early stage in pregnancy simply by taking a tiny sample of the mother's blood.

The test could give parents an earlier indication of whether their baby has particular chromosomal abnormalities and eventually may do away with existing methods of detecting those abnormalities in the developing baby in the womb -- some of which carry a risk of miscarriage.

It involves looking at the mother's blood to try and find genetic material from the baby that can then be studied for abnormalities using existing laboratory testing techniques.

Researchers from Hong Kong who used the testing method say they hope it will lead to safer and more reliable ways of diagnosing fetal abnormalities.

Reporting their findings in The Lancet this week, they write: "Ultimately, prenatal diagnosis by this technique could reduce our reliance on invasive methods."

The vast majority of Down's syndrome cases are due to an accident of nature, a chromosomal abnormality that can happen to anyone, while a fewer number of cases are due to a genetic problem inherited from either the mother or father.

The most common way of diagnosing it at the moment is amniocentesis -- a test that involves inserting a fine needle through the abdominal wall to the uterus to remove a small quantity of the amniotic fluid. This fluid then undergoes biochemical and chromosomal analysis to spot certain abnormalities in the fetus.

The procedure normally is carried out between the 15th and 20th week of the pregnancy. It is often distressing for the mother because chromosome tests can take several weeks to process. This means that, if the mother opts for a termination because the results show there are defects, it has to be performed when she is well into her pregnancy.

Because of the risk of miscarriage, the test normally is only offered to women aged over 35, when the risk of Down's syndrome exceeds the risk of losing the baby because of the amniocentesis, or if there is a family history of abnormalities.

Some women are offered an alternative test -- known as chorionic villus sampling (CVS) -- which can be performed much earlier than an amniocentesis, from around 12 weeks, where a tiny quantity of tissue can be taken from the placenta. However, this too carries a risk of miscarriage.

The hope is the new technique will be easier and safer. Scientists at the Chinese University of Hong Kong identified three women who were carrying fetuses already known to have the most common form of Down's syndrome, and 10 others who were carrying babies with normal chromosomes.

At 12 weeks gestation, doctors took a tiny sample of each mother's blood. Then they took another sample at 15 weeks, after some of the women had undergone CVS testing. The reason for this was that CVS could introduce fetal cells into the mother's blood during the procedure. The scientists wanted to see if the same cells were already there before the pregnant women underwent any tests.

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