Noninvasive Test May Identify Down Syndrome Early On (HealthDay)

Monday, March 7, 2011 4:01 PM By dwi

SUNDAY, March 6 (HealthDay News) -- A ultimate murder effort haw one period offer a safe artefact to notice Down syndrome during pregnancy, researchers say.

In a diminutive study, an experimental murder effort identified a factor modification associated with Down syndrome with 100 proportionality accuracy, according to the Cyprus scientists.

"Down syndrome is a ordinary relationship defect, with one Down syndrome relationship in every 600 births in every populations," said advance scientist Philippos Patsalis, chief executive scrutiny director of the state Institute of Neurology and Genetics in Nicosia. "This is due to an player chromosome 21, and that leads to fleshly and mental impairment."

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

Currently, Down syndrome is diagnosed using one 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 about one in 10 meaningful women opts for them, he said.

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

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

Although Down syndrome varies in severity, it commonly causes whatever intellectual decay and characteristic facial features. Heart defects and another upbeat problems are also common, according to the March of Dimes. Older mothers are more probable 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, 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 each case, the effort quickly pinpointed the chromosomal variation, identifying 14 Down syndrome cases and 26 normal fetuses, the think authors said.

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

Dr. Brian Skotko, clinical man in genetics at Children's Hospital Boston and a spokesman for the National Down Syndrome Society, said this study has widespread implications for the frequency 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 able to attain a very individualized selection without anyone realizing it," he said.

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

More information

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


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