The perinatal autopsy: a neglected source of discovery

Abstract

The perinatal autopsy is frequently viewed by pathologists as being scientifically unrewarding and contributing little to patient care. To emphasize its importance in patient management, genetic counselling and specific research, a ten-year review (1979-88) was made of the perinatal autopsy experience at Loyola University Medical Center. The 657 deaths included late fetal deaths (22%), early neonatal deaths (51%), late neonatal deaths (10%) and deaths between 29 days and one year (17%). Comparison of the principal causes of death in various groups categorized by birth weight and age revealed significant trends. There has been a steady decline in mortality from immediate complications of immaturity, while the mortality rate from long-term complications of immaturity has not increased. There were increased frequencies of congenital diaphragmatic hernia and cardiac malformations, while the frequency of renal malformations decreased; the etiological significance of these changes requires further evaluation. A correlation of clinical observations with post-mortem findings indicates that newer diagnostic procedures, such as ultrasound, echocardiography and cardiac catheterization, are of limited value for accurate diagnosis of complex anomalies, cystic renal disease and chromosomal anomalies. A substudy included cases up to 18 years of age. The frequency of childhood neoplasia was low (17 cases), and among these cases there was a predominance of haematological malignancies (11 cases). Even with these small numbers, a shift in cause of death from disseminated malignancy to overwhelming infection was apparent. This paper includes the essential elements of a protocol for perinatal autopsies, with illustrations of specific applications. The perinatal autopsy is clearly an undervalued source of information and discovery. Little or no information is available from developing countries, where autopsies could provide information on causes of paediatric mortality and permit recognition of disease patterns, which is so critical to the planning of health services.