Test could be available by 2013

A less risky non-invasive procedure for diagnosing Down’s syndrome could be generally available to pregnant women by 2013, a researcher in Cyprus said last week. The process, based on the mother’s DNA, is cheaper and quicker than collecting fluid from the womb. “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 said. “This method can apply to all pregnancies not only those at risk,” he added, describing it as “one of the most important milestones in the history of the institute.”

Prenatal diagnosis currently requires invasive procedures in the 16th week of pregnancy – procedures that pose a 1% chance of foetal loss. The diagnosis is only made available to high risk women. The preliminary report, published in the journal Nature Medicine, is the latest of a number of recent studies using maternal DNA blood to test for Down’s Syndrome.

Patsalis said the new test would be faster, taking less than five days to obtain results, and would not require complex lab equipment or expertise. As previously reported in BioEdge, more than 90% of women in developed countries who receive a definitive prenatal diagnosis of Down’s Syndrome choose to terminate their pregnancies. ~ AFP, Mar 8

Down’s Syndrome test breakthrough looming
Jared Yee
Down syndrome
genetic testing
genetic tests