[Prenatal diagnosis of atrioventricular septal defect and its prognostic significance]

Atrioventricular septal defect also known as endocardial cushion defect is severe congenital heart disease which is often associated with chromosomal abnormalities (30-50%) or is a part of a malformation syndrome (30%). Between 1, october 1992, and 30, september 1996. 21 cases were diagnosed prenatally. The chromosomal analysis found in 1 case trisomy 18, in 1 case trisomy 22 and in 7 cases trisomy 21. In 7 cases atrioventricular septal defect was part of Ivemark syndrome, none of them had chromosomal abnormality, except 1, who had trisomy 18. Out of 21 cases there was only one survivor. None of cases associated with Ivemark syndrome survived. In 4 cases sibs or parents had congenital heart disease. Four mother were above 40 years. The report summarises the most important abnormalities in the prenatal diagnosis of endocardial cushion defect and echocardiographic and embryopathologic foundings.