Down Syndrome Blood Test May Soon Be Available

Filed under: In The News, Health, Research Reveals

Down syndrome blood test

Down syndrome blood test

A simple Down syndrome blood test may soon take the place of risky, invasive procedures in predicting whether a baby will have the condition, Reuters reports.

Testing of the mother's blood can detect the DNA differences between the mother and the fetus and accurately predict the risk for developing the syndrome, researchers from Cyprus say in a report published in Nature Medical Journal.

With one in 700 childbirths resulting in Down syndrome, according to the report, the findings will have a significant impact worldwide, leading to changes in clinical practices within the next two years, Philippos Patsalis, medical director of the Cyprus Institute of Neurology and Genetics, tells Reuters, calling the results "very exciting."

"We believe we can modify this test and make it much easier and simple ... (and then) we can have something ready to be introduced into the clinic," Patsalis tells the news service.

The next step will be to move to a larger trial group of 1,000 pregnancies, beyond the 40 women tested in the current research, according to the report.


"Down's syndrome is considered to be the most frequent etiology of mental retardation," the researchers write in the report.

The risk of having a baby with Down syndrome, which occurs when a child has three copies of chromosome 21 instead of the normal two, increases sharply as women get older. The risk for a 40-year-old mother is 16 times that for one who is 25, according to the report.

Currently, doctors perform a test known as amniocentesis to check whether a baby is likely to be born with Down syndrome. This test is generally done at about 15 or 16 weeks gestation and involves taking amniotic fluid from the mother by inserting a hollow needle into the uterus, the report says.

But since amniocentesis carries a small risk -- about one or two percent -- of spontaneous miscarriage, Patsalis tells Reuters, scientists have been researching less invasive procedures to test for Down syndrome.

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