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SUNDAY, March 6 (HealthDay News) -- A simple murder effort may digit day offer a safe artefact 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 percent accuracy, according to the Cyprus scientists.

"Down syndrome is a ordinary relationship defect, with digit Down syndrome relationship in every 600 births in every populations," said advance scientist Philippos Patsalis, honcho chief medical director of the Cyprus Institute of Neurology and Genetics in Nicosia. "This is due to an extra chromosome 21, and that leads to fleshly and noetic impairment."

"With our method we refer every connatural and every 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 percent accurate, circularize a 1 percent to 2 percent venture of miscarriage, only about digit in 10 meaningful women opts for them, he said.

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

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

Although Down syndrome varies in severity, it commonly causes whatever 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 relationship to Down syndrome babies.

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

For the study, published 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 each 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 become standard practice, Patsalis said. "The outlay is such lower than the invasive procedures," he said. "We estimate we crapper introduce this to clinical training in a pair of years."

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

With this newborn test, women module know if their child has Down syndrome even before they countenance pregnant, Skotko said. "So they module be healthy to make a very personal selection without anyone realizing it," he said.

Noting that most of his Down syndrome patients say they advance fulfilling lives, Skotko said, "The overwhelming eld of kinsfolk members say they can't envisage their life without their kinsfolk member with Down syndrome."

More information

For more information on Down syndrome, meet the U.S. National Library of Medicine.

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