Cell-free DNA for the detection of fetal aneuploidy

Reproductive endocrinologists are often the first pro- viders to discuss prenatal genetic screening for aneu- ploidy. Cell-free DNA is the best screening test. Counseling about alternatives and unexpected out- comes is important.

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Volume 109, Issue 2, Pages 195–200


Tamar Goldwaser, M.D., Susan Klugman, M.D.


Screening for fetal aneuploidy via cell-free DNA was described more than two decades ago and has been used clinically by obstetric providers in the United States for more than 5 years. Cell-free DNA affords excellent detection of fetal Down syndrome and other common aneuploidies and thus is sought by patients and providers. However, owing to the source of the DNA and the nature of the screening test, scenarios may arise that require expert counseling about complex issues regarding fetal and maternal health, test interpretation, and management. It is essential that infertility specialists understand the specific issues related to the strengths and limitations of this screening test, especially in light of expanded genetic testing of embryos.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.