Mom's Blood Reveals Baby's Down Syndrome

Last week researchers released the first non-invasive prenatal test for Down syndrome, and more such tests are expected in the coming months.

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WIKIMEDIA COMMONS, CANWEST NEWS SERVICE

Finally there is an alternative to poking a needle into a mother's womb to test her baby for genetic abnormalities. Last week (October 17), researchers at Sequenom, a genetic diagnostics manufacturer based in San Diego, California, announced the release of MaterniT21, which uses a sample of the mother's blood to test for Down syndrome in the fetus. Specifically, it measures the abundance of DNA that comes from chromosome 21—normally around 1.35 percent of the DNA in the blood. An overabundance of chromosome 21 sequences suggests the fetus may have Down's, which results from carrying an extra copy of the chromosome.

The test boasts a false positive rate of just 0.2 percent, and is being marketed as an additional test to follow up on ultrasound predictions ...

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Meet the Author

  • Jef Akst

    Jef Akst was managing editor of The Scientist, where she started as an intern in 2009 after receiving a master’s degree from Indiana University in April 2009 studying the mating behavior of seahorses.
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