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Noninvasive Prenatal Testing for Microdeletion Syndromes and Expanded Trisomies: Proceed With Caution

Vora, Neeta L. MD; O'Brien, Barbara M. MD

doi: 10.1097/AOG.0000000000000237
Contents: Current Commentary

The identification of circulating cell-free fetal DNA in maternal plasma has led to the introduction of noninvasive prenatal tests with high sensitivity and high specificity for common aneuploidies (trisomy 13, trisomy 18, trisomy 21). A new expanded noninvasive prenatal testing panel that includes five microdeletion syndromes (22q11 deletion syndrome, cri-du-chat [5p minus], Prader Willi or Angelman syndrome, 1p36 deletion syndrome) and two aneuploidies usually associated with nonviable pregnancies (trisomy 16 and trisomy 22) is now available. This expanded panel will be performed unless an opt-out box is checked. Because these disorders are so rare, the positive predictive value is expected to be low. As with all new screening tests and technologies, the expanded panel should be appropriately studied before it is widely adopted.

An expanded noninvasive prenatal testing panel, which screens for microdeletion syndromes and trisomy 16 and trisomy 22, is being offered as an opt-out test before clinical validation studies have been published.

Departments of Obstetrics and Gynecology, University of North Carolina-Chapel Hill, Chapel Hill, North Carolina, and Alpert Medical School at Brown University, Women and Infant's Hospital, Providence, Rhode Island.

Corresponding author: Neeta L. Vora, MD, University of North Carolina-Chapel Hill, 3010 Old Clinic Building, CB #7516, Chapel Hill, NC 27516; e-mail:

Financial Disclosure Dr. O'Brien receives compensation from Sequenom for educational lectures she gives on noninvasive prenatal testing. The other author did not report any potential conflicts of interest.

© 2014 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.