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Current Methods of Prenatal Screening for Down Syndrome and Other Fetal Abnormalities


Clinical Obstetrics and Gynecology: March 2008 - Volume 51 - Issue 1 - p 24-36
doi: 10.1097/GRF.0b013e318160f274
Current Concepts in Prenatal Genetics

Prenatal diagnosis of Down syndrome is widely available, but the determination of which patients should undergo prenatal diagnosis is changing. With the recent acceptance of first-trimester and integrated screening as a part of routine clinical practice, there are now a variety of accepted screening protocols for Down syndrome and other aneuploidies. These choices can be confusing both to both patients and providers. The following discussion is meant to outline the various options in prenatal screening, and their individual advantages and disadvantages.

*Maternal Fetal Medicine

Departments of Obstetrics and Gynecology

Pediatrics, University of Virginia, Charlottesville, VA

§Division of Prenatal and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital of Rhode Island

Department of Pathology and Laboratory Medicine, The Warren Alpert Medical School of Brown University, Providence, Rhode Island

Correspondence: Devereux N. Saller, Jr, MS, MD, Maternal Fetal Medicine, Departments of Obstetrics and Gynecology, and Pediatrics, University of Virginia, Department of Obstetrics and Gynecology, PO Box 800712, Charlottesville, VA 22908. E-mail:

© 2008 Lippincott Williams & Wilkins, Inc.