Genetic Epidemiology and Congenital Malformations

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Abstract
Birth defects or congenital malformations are a significant public health concern that affects 3% to 4% of all live births, and many elective pregnancy terminations or spontaneous abortions. Every year in the United States, approximately 150 000 babies are born with birth defects.1 Birth defects and genetic diseases are the leading causes of infant deaths and result in substantial mortality and morbidity throughout childhood.2 Although birth defects account for 15% to 30% of all pediatric hospitalizations, they exact a proportionally higher health care cost than other hospitalizations.2,3 Approximately $8 billion is spent annually to provide medical and rehabilitative care for affected children in the United States.4,5 Thus, birth defects impart a significant burden to families and society.