ABSTRACT: Human genetics and molecular testing are playing an increasingly important role in medicine, including obstetric and gynecologic practice. As the genetic basis for reproductive disorders, common diseases, and cancer is elucidated with improved molecular technology, genetic testing opportunities are expanding and influencing treatment options and prevention strategies. It is essential that obstetrician–gynecologists be aware of advances in the understanding of genetic disease and the fundamental principles of genetic screening and molecular testing as genetics becomes a more integral part of routine medical practice. This document reviews the basics of genetic transmission and genetic technologies in current use.
This Technology Assessment was developed by the Committee on Genetics. This document reflects emerging clinical and scientific advances as of the date issued and is subject to change. The information should not be construed as dictating an exclusive course of treatment or procedure to be followed. Variations in practice may be warranted based on the needs of the individual patient, resources, and limitations unique to the institution or type of practice.
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The American College of Obstetricians and Gynecologists 409 12th Street, SW, PO Box 96920 Washington, DC 20090-6920
Genetics and molecular diagnostic testing. Technology Assessment in Obstetrics and Gynecology. No. 11. American College of Obstetricians and Gynecologists. Obstet Gynecol 2014; 123:394–413.