Another Non-invasive Fetal Test

Fetal chromosomal microdeletions that can lead to developmental abnormalities are detectable in samples of the mother’s blood.

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FLICKR, MARCELO CANTARELA

Last month (October 17), genetic diagnostics manufacturer Sequenom released a new test that can detect whether a baby has Down syndrome from a sample of the mother’s blood. At the time, researchers predicted it would be the first of many such non-invasive fetal tests. Now, with the publication of a similar test for genetic deletions in unborn babies, that prediction appears to be coming true.

David Peters of the University of Pittsburgh Medical Center and his colleagues took blood samples from a pregnant woman whose older child had developmental delay and dysmorphic features. Doctors had previously determined that the older child inherited a 4.2-Megabase deletion on chromosome 12 from its father. Amniocentesis—a procedure involving the extraction of a small amount of fluid from the amniotic ...

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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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