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Clin Obstet Gynecol. 2014 Mar;57(1):210-25. doi: 10.1097/GRF.0000000000000016.

Noninvasive prenatal detection of aneuploidy.

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1
*Department of Obstetrics and Gynecology/Division of Maternal-Fetal Medicine, University of Virginia, Charlottesville, Virginia; †Sequenom Inc.; ‡Department of Obstetrics and Gynecology/Division of Reproductive Medicine, University of California San Diego, San Diego, California.

Abstract

Noninvasive prenatal testing (NIPT) uses cell-free fetal DNA from the plasma of pregnant women to provide valuable information about the potential risks for fetal aneuploidy. This article provides a historical overview of both invasive diagnostic testing and serum screening approaches, both biochemical and the newer molecular noninvasive prenatal testing assays, used to identify patients who would be best served by invasive testing.

PMID:
24351443
DOI:
10.1097/GRF.0000000000000016
[Indexed for MEDLINE]
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