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

In a small study, an experimental blood effort identified a gene modification associated with Down syndrome with 100 proportionality accuracy, according to the Cyprus scientists.

"Down syndrome is a common relationship defect, with digit Down syndrome relationship in every 600 births in every populations," said advance scientist Philippos Patsalis, honcho executive scrutiny director of the Cyprus Institute of Neurology and Genetics in Nicosia. "This is due to an extra chromosome 21, and that leads to physical and mental 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, amniocentesis or chorionic villus sampling. Because these tests, patch 80 proportionality accurate, circularize a 1 proportionality to 2 proportionality venture of miscarriage, only most 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 week of pregnancy, primeval enough for a blackamoor to end her maternity if she chooses, Patsalis said.

Although Down syndrome varies in severity, it usually causes whatever intellectual decay and distinguishing facial features. Heart defects and another health problems are also common, according to the March of Dimes. Older mothers are more likely to give relationship 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, published online March 6 in Nature Medicine, Patsalis and his colleagues took blood 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 become standard practice, Patsalis said. "The cost 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 widespread implications for the incidence of Down syndrome.

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

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

More information

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

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