Feasibility and performance of post-mortem examination to determine the aetiology of congenital anomalies in a population of 1019 foetal and perinatal deaths

We assess the feasibility and the performance of a post-mortemexamination protocol including Polaroid® photographs, radiographs,karyotyping, gross and microscopic necropsy, and genetic expertise.This protocol was applied to the 1019 consecutive foetal orperinatal deaths that occurred between January 1984 and June1987 in the Marseille district (France). The feasibility forthe routine use of such a protocol was low; all five componentsof the protocol were completed in only 9% of the cases. Grossautopsy was performed in 85% of the cases, histologic examinationin 48%, successful karyotyping in 17%, radiography in 52% andgenetic expertise in all the cases. Of the 1019 consecutivecases reviewed, 227 lethal congenital anomalies were detected(22.3%). Each element's contribution to the establishment ofthe aetiology of congenital anomalies was assessed. Alone orcombined with the information given by other elements of theprotocol, gross necropsy gave the cause of death in 58% of allcases, karyotyping in 38%, radiography in 3% and genetic expertisein 38%. If the protocol had been applied to malformed Infantsonly, it would have detected 86% of the aetiologies of congenitalanomalies.