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Concerns Linger As New Down Syndrome Test Hits Market - featured October 18, 2011

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[Source: Disability Scoop]

In a move that’s been anticipated for years, a prenatal blood test to detect Down syndrome became available Monday in 20 major cities, the company behind the screening tool said.

The test, developed by California-based Sequenom, accurately identified Trisomy 21 — the most common form of Down syndrome — in 98.6 percent of cases, according to a study published Monday in the journal Genetics in Medicine. The research indicates that there is a false-positive rate of 0.2 percent.

Officials with Sequenom say the new blood test is intended for the estimated 750,000 pregnant women each year who are at high risk for having a baby with Down syndrome. The test can be performed as early as 10 weeks into a pregnancy.

The ability to detect Down syndrome in the womb by analyzing the mother’s blood is considered a breakthrough. Previously available testing methods such as amniocentesis are far more invasive and present a risk of miscarriage.

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Tags: News of the Week Down Syndrome Newsletter 21 October 2011