New Down syndrome screening simpler and safer than than standard tests

New Test for Down Syndrome

Down syndrome or Down's syndrome screening usually involves invasive procedures which can be uncomfortable and risky. Now a new blood test given to pregnant women may offer more relief and simplicity.

European researchers came up with the new screening test as reported online Sunday in the journal Nature Medicine.

The study team proved that a simple test of the mother's blood can detect Down syndrome from fetal DNA. Scientists from England, Cyprus and Greece performed a blind test and they successfully identified 14 Down syndrome cases separately from 26 normal fetuses.

"Down syndrome is a common birth defect, with one Down syndrome birth in every 600 births in all populations," according to Philippos Patsalis, one of the study authors. "With our method we identify all normal and all Down syndrome [pregnancies]," Patsalis said.

Current standard screening include blood and ultrasound tests. For a definitive diagnosis, physicians perform amniocentesis, where fluid from the placenta is extracted and analyzed. However, that carries a slight risk of miscarriage. A new blood test can eliminate that risk as well as detect Down's syndrome earlier than current tests.

Down syndrome is caused by an extra copy of the 21st chromosome. It results to various cognitive delays and physical abnormalities.

Many other reports have also proposed blood testing to detect the condition in a fetus. A commercial test may be available as soon as this year. If larger studies validate the results, then the new diagnostic blood test can be available as standard practice to detect Down syndrome.

Posted by George Daniels on Monday March 07 2011, 5:09 AM EDT. Ref: AP. All trademarks acknowledged. Filed under Featured News, Health. Comments and Trackbacks closed. Follow responses: RSS 2.0