Major structural birth defects occur in approximately 3% of births, are the most common cause of infant mortality, and are associated with significant morbidity. This chapter discusses established epidemiologic and etiologic characteristics for birth defects. Terminology used in the field of birth defects is described. Methodologic issues, such as case definition, case-control study design, and exposure measurement, are described both conceptually and with examples as they pertain to epidemiologic studies of birth defects. Specific challenges to identifying risk factors are identified and potential solutions are discussed.
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