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SUNDAY, March 6 (HealthDay News) -- A ultimate murder effort may digit day offer a safe way to notice Down syndrome during pregnancy, researchers say.

In a small study, an empiric murder effort identified a factor mutation associated with Down syndrome with 100 proportionality accuracy, according to the Cyprus scientists.

"Down syndrome is a ordinary birth defect, with digit Down syndrome birth in every 600 births in all populations," said lead researcher Philippos Patsalis, chief executive medical administrator of the Cyprus Institute of Neurology and Genetics in Nicosia. "This is due to an player chromosome 21, and that leads to physical and mental impairment."

"With our method we refer all connatural and all Down syndrome [pregnancies]," Patsalis said.

Currently, Down syndrome is diagnosed using digit of digit intrusive procedures, centesis or chorionic villus sampling. Because these tests, while 80 proportionality accurate, circularize a 1 proportionality to 2 proportionality venture of miscarriage, exclusive about digit in 10 meaningful women opts for them, he said.

The new effort eliminates the venture of miscarriage, Patsalis said.

It also crapper refer Down syndrome in the 11th hebdomad of pregnancy, primeval enough for a woman to end her maternity if she chooses, Patsalis said.

Although Down syndrome varies in severity, it usually causes some intellectual decay and distinguishing facial features. Heart defects and other upbeat problems are also common, according to the March of Dimes. Older mothers are more likely to provide birth to Down syndrome babies.

People with Down syndrome, also famous as Trisomy 21, circularize three copies of chromosome 21, instead of two.

For the study, publicised online March 6 in Nature Medicine, Patsalis and his colleagues took murder samples from meaningful women and mothers of Down syndrome and flourishing babies. In apiece case, the effort quickly pinpointed the chromosomal variation, identifying 14 Down syndrome cases and 26 connatural fetuses, the think authors said.

If large clinical trials confirm the results, the effort could embellish standard practice, Patsalis said. "The outlay is much lower than the invasive procedures," he said. "We judge we crapper introduce this to clinical training in a couple of years."

Dr. Brian Skotko, clinical fellow in biology at Children's Hospital Boston and a spokesman for the National Down Syndrome Society, said this study has distributed implications for the frequency of Down syndrome.

With this new test, women will know if their child has Down syndrome even before they look pregnant, Skotko said. "So they will be healthy to make a rattling personal decision without anyone realizing it," he said.

Noting that most of his Down syndrome patients feature they lead fulfilling lives, Skotko said, "The resistless majority of kinsfolk members feature they can't envisage their life without their kinsfolk member with Down syndrome."

More information

For more aggregation on Down syndrome, visit the U.S. National Library of Medicine.

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