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Best practices: antenatal screening for common genetic conditions other than aneuploidy

Ram, Kavitha Ta; Klugman, Susan Db

Current Opinion in Obstetrics and Gynecology: April 2010 - Volume 22 - Issue 2 - p 139–145
doi: 10.1097/GCO.0b013e3283372379
Prenatal diagnosis: Edited by James F. Smith

Purpose of review Carrier screening aims to identify asymptomatic heterozygotes of heritable disorders and has a vital, ever-changing role in its application to the prenatal detection of disease. An explosion of new technologies for the identification of single-gene disorders challenges our ability to evaluate each individual test prior to its introduction into the private and public sectors.

Recent findings The efficacy of carrier screening is dependent on several factors including the validity of the test, the incidence of disease within the community, and as many genetic disorders segregate along ethnic and racial lines, which populations should be offered testing. The difficulties in evaluating prenatal screening programs are highlighted by the recent conflicting recommendations from the American College of Medical Genetics and the American Congress of Obstetrics and Gynecology over several single-gene disorders. In addition, changes in the recommendation for universal versus risk-based screening for ethnically segregated disorders remain controversial. These conflicts have major impacts in the provision of genetic counseling in the prenatal outpatient setting.

Summary We will evaluate current and proposed screening protocols for several single-gene disorders, and comment on universal versus ethnic-based screening. Our objective is to develop guidelines for genetic screening in the antenatal outpatient setting.

aDepartment of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, New York Medical College, Valhalla, USA

bDepartment of Obstetrics and Gynecology and Women's Health, Division of Reproductive Genetics, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York, USA

Correspondence to Kavitha T. Ram, MD, MS, Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Metropolitan Hospital Campus of New York Medical College, 1901 First Avenue, New York, NY 10029, USA Tel: +1 212 423 6798; fax: +1 212 423 8121; e-mail:

© 2010 Lippincott Williams & Wilkins, Inc.