Associated malformations in cases with oral clefts

Objective: Infants with oral clefts (OCs) often have other associated conge nital defects. The reported incidence and the types of associated malformat ions vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically de fined population. Method: The prevalences at birth of associated malformations in infants wit h OCs were collected between 1979 and 1996 on all infants born in the area covered by the registry of congenital anomalies of Northeastern France in 2 38,942 consecutive births. Results: Of the 460 cleft infants born during this period, 36.7% had associ ated malformations. Associated malformations were more frequent in infants who had cleft palate (46.7%) than in infants with cleft lip and palate (36. 8%) or infants with isolated cleft lip (13.6%). Malformations in the centra l nervous system and in the skeletal system were the most common other anom alies, followed by malformations in the urogenital and cardiovascular syste ms. Weight, length, and head circumference of children with OCs and multiple as sociated malformations were lower than in controls, as was the weight of th e placenta. Prenatal diagnosis was rarely done by fetal ultrasonographic examination in isolated clefts. However, even in multiple associated malformations, prena tal diagnosis by fetal ultrasonographic examination had a low sensitivity, 31.6%. Conclusion: The overall prevalence of malformations, which was one in more than three infants, emphasizes the need for a thorough investigation of inf ants with clefts. A routine screening for other malformations especially sk eletal, central nervous system, and cardiac defects may need to be consider ed in infants with clefts, and genetic counseling seems warranted in most o f these complicated cases.