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Prenatal Diagnosis: Cases &; Clinical Challenges

Yale Medicine Magazine, 2012 - Spring

Contents

by Miriam S. DiMaio, M.S.W., senior genetic counselor; Joyce E. Fox, M.D., FW ’86; and Maurice J. Mahoney, M.D., J.D., FW ’70, professor of genetics, of obstetrics, gynecology, and reproductive sciences, and of pediatrics. (Wiley-Blackwell) This book is based on the authors’ decades of experience during an era of rapid development in in utero diagnosis. The authors use real cases to portray diagnostic problems as a route to underlying biology, available testing options, and results that may be obtained. The authors discuss the challenges of management, interpretation, and counseling by emphasizing three types of clinical problems: chromosomal abnormalities; Mendelian disorders; and fetal structural abnormalities.

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