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New test for Down’s Syndrome

Cheap, quick blood sample from mother can diagnose disease in fetus.

Researchers in Cyprus are able to detect trisomy 21 fetuses using a simple blood test, reports Canadian Press.  

"Down’s Syndrome, or Trisomy 21, is the most common cause of mental retardation with an incidence of one in 600 births," Philippos Patsalis of the Institute of Neurology and Genetics in Nicosia told reporters.

The preliminary report, published in the journal Nature Medicine, is the latest of several recent studies that indicate scientists can detect Down’s syndrome through simple DNA blood tests.

Current screening for high-risk mothers involves an invasive test to retrieve a sample of amniontic fluid or placenta, which carries a slight risk of miscarriage.

Patsalis said the new test would be faster as it could take less than five days to obtain results, without requiring invasive tests, and specialized equipment or knowledge. "The test can be easily introduced into every genetic diagnostic lab in the world," he said.

"This method can apply to all pregnancies not only those at risk," he added; typically older mothers are considered high risk.

In the clinical trial, Patsalis and his team correcting diagnosed 14 cases that had extra copies of chromosome 21.