Congenital Malformations

EUROCAT covers 12 organ-system groups including nervous system, heart, urinary system, limbs, and other specified malformations. Minor malformations on the EUROCAT exclusion list are not counted as major congenital malformations. Congenital malformation incidence is higher in lower-resource settings than in high-income countries. The primary outcome is major congenital malformation in infants, classified using the EUROCAT system. Congenital malformations are structural or functional anomalies present before birth and are the leading cause of infant mortality worldwide. A major congenital malformation is confirmed by repeated diagnosis codes, diagnosis plus procedure, or diagnosis associated with infant death within one year of delivery. Secondary outcomes include organ-specific congenital malformations, especially congenital cardiac malformations. The cause of congenital malformations remains unknown in most cases. Multiple hereditary and environmental factors are thought to act together to disrupt embryo-fetal development.