Pathologist's role in identifying cardiac defects—a fetal autopsy series

Abstract

AimsMajor cardiac abnormalities can lead to miscarriages and is also an important indication of medical termination of pregnancy. The present study aims: (1) To determine the spectrum of cardiac anomalies in fetal autopsies, (2) To correlate the autopsy findings with prenatal imaging studies. MethodsFetal autopsies with cardiac anomalies were retrospectively analyzed over a period of five years. Autopsy diagnoses were correlated with prenatal ultrasound and echocardiogram findings. ResultsOf the 177 fetal autopsies, 40 (22.5%) cases with cardiac defects were identified. Among these cases, 11 (27.5%) showed only cardiac defects and associated extracardiac malformations were seen in 29 cases (72.5%). Septal defects (45%) were the most frequent cardiac defect followed by left ventricular outflow tract obstruction. Agreement with prenatal imaging and autopsy findings was seen in 65% of cases. There was 100% concordance between autopsy and echocardiogram wherever available. ConclusionCardiac malformation forms a significant subset of fetal congenital anomalies. Meticulous examination and following sequential segmental analysis during autopsy are essential in identifying complex cardiac and additional extra cardiac defects in the fetuses. Fetal autopsy plays a vital role in confirming and/or refuting the imaging findings and could be the steppingstone in understanding the pathogenesis of cardiac abnormalities.