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Expanded Carrier Screening in Reproductive Medicine—Points to Consider

A Joint Statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine

Edwards, Janice G. MS; Feldman, Gerald MD, PhD; Goldberg, James MD; Gregg, Anthony R. MD; Norton, Mary E. MD; Rose, Nancy C. MD; Schneider, Adele MD; Stoll, Katie MS; Wapner, Ronald MD; Watson, Michael S. MD

doi: 10.1097/AOG.0000000000000666
Contents: Current Commentary
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The Perinatal Quality Foundation and the American College of Medical Genetics and Genomics, in association with the American College of Obstetricians and Gynecologists, the Society for Maternal-Fetal Medicine, and the National Society of Genetic Counselors, have collaborated to provide education for clinicians and laboratories regarding the use of expanded genetic carrier screening in reproductive medicine. This statement does not replace current screening guidelines, which are published by individual organizations to direct the practice of their constituents. As organizations develop practice guidelines for expanded carrier screening, further direction is likely. The current statement demonstrates an approach for health care providers and laboratories who wish to or who are currently offering expanded carrier screening to their patients.

Points to consider in the use of expanded carrier screening are provided for clinicians and laboratories.

American College of Medical Genetics and Genomics, Bethesda, Maryland; the American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine, Washington, DC; the National Society of Genetic Counselors, Chicago, Illinois; and the Perinatal Quality Foundation, Oklahoma City, Oklahoma.

Corresponding author: Nancy C. Rose, MD, Intermountain Healthcare, University of Utah School of Medicine, Department of Obstetrics and Gynecology, 30 N 1900 E, Suite 2B200, Salt Lake City, UT 84132; e-mail: nancy.rose@imail.org.

Supported by the Perinatal Quality Foundation. The authors thank Jean Lea Spitz, MPH, RDMS, Executive Director of the Perinatal Quality Foundation.

Ms. Edwards was the consensus facilitator.

Financial Disclosure Dr. Feldman is the director of a clinical laboratory offering molecular diagnostics, including carrier screening. Dr. Norton receives grant funding from Natera, Inc. and Ariosa Diagnostics, companies that perform noninvasive prenatal screening. She is also on the advisory board of Natera, Inc. Dr. Schneider is a consultant to Quest Diagnostics. Dr. Wapner is on the advisory boards for Baylor College of Medicine Medical Genetics Laboratories and CombiMatrix, which provide molecular diagnostic testing. He also receives federal funding for research related to prenatal diagnostic testing and receives research funding from Ariosa Diagnostics, Illumina, Natera, and Sequenom related to prenatal screening. The other authors did not report any potential conflicts of interest.

© 2015 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.