Is neonatal autopsy still relevant? Insights from very preterm infants

Neonatal autopsy is the gold standard for establishing the definitive cause of death, particularly in preterm infants whose clinical complexity often limits antemortem diagnostic accuracy. Despite its value, autopsy rates have declined, raising questions about its current role. We aimed to assess autopsy rates in preterm neonates under 32 weeks of gestation and evaluate the concordance between clinical and pathological diagnoses.

We conducted a retrospective study of clinical and pathological records of deceased newborns who underwent autopsy between 2008 and 2022 in a Portuguese tertiary Neonatal Intensive Care Unit. Concordance was assessed using the modified Goldman criteria.

Among 501 preterm admitted, 73 (14.6%) died and 44 (60.3%) of those underwent autopsy. Median gestational age was 26 weeks. Infants born at 29-31 weeks were over five times more likely to undergo autopsy than those at 23-25 weeks. Main causes of death were prematurity-related complications and congenital malformations. Complete concordance between clinical and pathological diagnoses was observed in 27.3% of cases. In three cases, autopsy findings could have influenced medical management and in 9.1% they provided information relevant for genetic counselling.

Neonatal autopsy remains a key tool for clarifying diagnoses in preterm newborns, confirmation or correcting clinical impressions, improving quality of care, and providing important information for genetic counselling. Autopsy remains valuable and should continue to be actively promoted as an integral part of neonatal clinical practice.