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Noninvasive Prenatal Detection of Aneuploidy

ROBINSON, CHRISTOPHER MD*; VAN DEN BOOM, DIRK PhD; BOMBARD, ALLAN T. MD†,‡

Clinical Obstetrics & Gynecology: March 2014 - Volume 57 - Issue 1 - p 210–225
doi: 10.1097/GRF.0000000000000016
Noninvasive Screening for Fetal Aneuploidies: Eliminating Unwanted Surprises

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.

*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

D.V.D.B. and A.T.B. are full-time employees of Sequenom, Inc. The other author has no conflict of interest to declare.

Correspondence: Allan Bombard, MD, Sequenom Inc., San Diego, CA. E-mail: ATBster@gmail.com

© 2014 by Lippincott Williams & Wilkins.