Clinical investigation of congenital heart defects in prenatal life: a retrospective study on 198 cases

Abstract

Objective: The authors present a necropsy study of fetal congenital heart defects (CHD) collected retrospectively, to investigate the spectrum of CHD in prenatal life and the frequency of extracardiac malformations and the proportion of chromosome abnormalities among the fetuses. Materials and Methods: During a five-year period, necropsies were performed in 198 fetuses with congenital heart anomalies identified by prenatal ultrasound and for which prenatal cytogenetic analyses were performed on fetal cells obtained by amniocentesis and cordocentesis. Sequential segmental analysis was used to describe cardiac defects according to the prenatal ultrasound findings and postnatal necropsy results. The classification of these cases was referred to the grading suggested by Choi. Results: The 198 cases were divided into two groups: group 1 described fetuses with severe cardiac anomalies which contained 90 cases and group 2 described fetuses with complex cardiac anomalies which contained 108 cases. In the spectrum of heart malformations, complex cardiac anomalies comprised 54.5% of the malformations and severe cardiac anomalies comprised 45.5% in the present necropsy population. Extracardiac malformations accounted for 104 cases (52.5%), and chromosome abnormalities were diagnosed in 34 fetuses (17.2%). Conclusion: Fetal cardiac anomalies detected in the present study were more severe than those in previous cardiology surveys. The present data will provide an adequate basis for future genetic counseling and improvement of prenatal care for fetal congenital heart defects.