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January 2005 · Vol. 17, No. 1

UPDATE on PRENATAL COUNSELING

New Developments That Are Changing Patient Care

New screening basics for the generalist

Fast Track

Among Ashkenazi Jews, DNA testing detects more than 95% of carriers of autosomal disorders

Louise  Wilkins-Haug,  MD, PhD

Associate Professor
Obstetrics, Gynecology, and Reproductive Biology, Harvard Medical School
Director, Center for Fetal Medicine and Prenatal Genetics
Brigham and Women’s Hospital,
 Boston

Thanks to advances in genetics, we know the mutations responsible for a growing number of inherited disorders, but making use of that information in a generalist practice is a challenge, given all the other tasks we must manage.

Overall, you must determine the extent to which you will provide and interpret genetic testing and when to refer patients to a specialist. This article aims to simplify that decision by reviewing guidelines and key studies in 3 areas:

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