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CMAJ • August 6, 2002; 167 (3)
© 2002 Canadian Medical Association or its licensors

Review
Synthèse

Medical genetics: 1. Clinical teratology in the age of genomics

Janine E. Polifka and J.M. Friedman

Dr. Polifka is with the Department of Pediatrics, University of Washington, Seattle, Wash. Dr. Friedman is with the Department of Medical Genetics, University of British Columbia, Vancouver, BC

Series editor: Dr. Judith Hall

Correspondence to: Dr. Janine E. Polifka, TERIS, Box 357920, University of Washington, Seattle WA 98195-7920, USA; fax 604 875-3490; polifka{at}u.washington.edu

Abstract

Teratogenic exposures are those that can cause an embryo or fetus to develop abnormally. Several factors determine whether an agent is teratogenic, including the gestational timing of the exposure, as well as the dose, route and nature of the agent itself. We review the general concepts of teratogenesis, as well as known genetic susceptibilities to teratogenic effects, with a special focus on antiepileptic drugs. We discuss general principles of risk counselling and risk reduction, and we describe several long-known teratogens, as well as several exposures recognized only recently to have teratogenic potential.




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