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Expanded carrier screening in pregnant women and women planning pregnancy

Britton D Rink, MD, MS
Section Editor
Louise Wilkins-Haug, MD, PhD
Deputy Editor
Vanessa A Barss, MD, FACOG


Historically, the approach to preconception and prenatal carrier screening has been selective (ie, targeted or condition-directed), based primarily on race/ethnicity and personal/family history. Increasingly, however, patients are asking for and being offered a broader approach to carrier screening, which is possible because of rapid advancements in genetic testing technologies and decreasing costs. Although the information from expanded carrier screening can inform patient and provider decision-making, it can also present practical and ethical challenges that need to be considered.

This topic will discuss issues related to expanded carrier screening in women planning pregnancy or who are pregnant. Genetic screening in specific populations and for specific conditions are reviewed separately:

(See "Carrier screening for genetic disease in the Ashkenazi Jewish population".)

(See "Down syndrome: Overview of prenatal screening".)

(See "Prenatal screening and diagnosis for fragile X syndrome".)

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Literature review current through: Nov 2017. | This topic last updated: Oct 27, 2017.
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