Genetic Epidemiology and Congenital Malformations

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 150000 babies are born with birth defects. ' 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.