Aim: The authors reviewed cases of prenatally diagnosed atrioventricular septal defect to investigate the effect of associated intra and extracardiac malformations, related chromosomal anomalies and time of diagnosis on the outcome of these pregnancies.
Material and method: Retrospective analysis of the data of prenatally diagnosed cases of atrioventricular septal defects detected between 1. January 1996 and 31. August 2003. For statistical analysis Fischer exact test was used.
Result: During this period 83 atrioventricular septal defects were diagnosed prenatally. The mean age of the pregnant women was 30.9 year (15-43 year). The mean gestational age at the time of diagnosis was 25.2 weeks (13-38 weeks). The prenatal diagnosis was confirmed by fetopathologic, pathologic examination or postnatal echocardiography. There were no false positive or negative diagnosis. Prenatal chromosomal analysis was performed in 39 pregnancies, with a result of 13 normal caryotypes, 19 cases of trisomy 21, 6 cases of trisomy 18 and 1 case of trisomy 22. In 42 cases parents requested termination of the pregnancy. There were 6 intrauterine deaths, 16 neonatal deaths, 19 patients are alive at the time of this study. There were 9 patients, in the group of the survivors, where chromosomal abnormalities were detected prenatally, but the gestational age at the time of the diagnosis was more than 24 weeks. Atrioventricular septal defect was an isolated heart abnormality in each case of trisomy 21. Among the cases of trisomy 18, the atrioventricular septal defect of 2 patients was isolated heart malformation, in 4 cases other intracardiac malformations and in 1 case diaphragmatic hernia was detected as well.
Conclusion: Regarding cardiac surgery the prognosis of isolated atrioventricular septal defect is good nowadays. The most important prognostic factors were associated intracardiac and extracardiac malformations and chromosomal anomalies. If the atrioventricular septal defect is an isolated heart malformation, the risk of associated chromosomal anomalies are much higher than in cases of complex heart malformations. The early prenatal diagnosis has great importance.