Wednesday, October 19, 2011

Down syndrome blood test comes to U.S.

Pregnant women in the U.S. who want to know whether they're carrying a fetus with Down syndrome now have access to a commercial genetic blood test that has a 99 per cent accuracy rate.

Down syndrome, which results in a range of cognitive delays, is caused by having an extra copy or parts of chromosome 21.

Current screening tests such as amniocentesis involve inserting a needle into the woman's womb to get a sample for diagnosis. Amniocentesis is invasive and comes with a risk of miscarriage.

But as this week, Sequenom is offering women in 20 major U.S. cities a blood test that analyzes fetal DNA in the woman's blood.

The company published a study this week in the journal Genetics of Medicine that suggested the test picked up 98.6 per cent of fetuses with Down syndrome with a false-positive rate of 0.20 per cent.

The blood test, called MaterniT21, can be used as early as 10 weeks into a pregnancy for those at high-risk.

"The pregnant women can be safely assured that all we will be taking is just a blood sample," said Dr. Rossa Chiu of the University of Hong Kong, who helped develop the test. "The majority of cases would not need to go on to an invasive test."

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