Objective: Infants with oral clefts (OCs) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population.
Method: The prevalences at birth of associated malformations in infants with 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 238,942 consecutive births.
Results: Of the 460 cleft infants born during this period, 36.7% had associated 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 central nervous system and in the skeletal system were the most common other anomalies, followed by malformations in the urogenital and cardiovascular systems. Weight, length, and head circumference of children with OCs and multiple associated malformations were lower than in controls, as was the weight of the placenta. Prenatal diagnosis was rarely done by fetal ultrasonographic examination in isolated clefts. However, even in multiple associated malformations, prenatal 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 infants with clefts. A routine screening for other malformations especially skeletal, central nervous system, and cardiac defects may need to be considered in infants with clefts, and genetic counseling seems warranted in most of these complicated cases.