The Incidence of Liver Disease Diagnosed by Perinatal Autopsy.
Lindsay Griffits, Samuel H Pepkowitz, Stephen A Geller. Cedars-Sinai Medical Center, Los Angeles, CA
Background: Aside from hypoxic injury significant hepatic disease is unusual in neonates, although the potential etiologies are numerous. Moreover, in ill neonates the presence of specific liver disease may be unsuspected because of multi-organ compromise and, even if overt, often not amenable to liver biopsy for definitive diagnosis. To better understand the frequencies of various hepatic diagnoses we reviewed 20 years of perinatal autopsies from one institution focusing on hepatobiliary findings.
Design: Records of 596 perinatal autopsies performed at our tertiary care institution from 1990 through 2010 were reviewed for any “final diagnosis” of hepatobiliary disease: we identified 84 cases (14%). For these cases the clinical history was reviewed and relevant slides were re-examined for bile duct anomalies, ductal plate abnormalities, bile duct paucity, cholangiopathy, cholestasis, hepatitis or liver-based infection, steatosis, vascular abnormalities, hematopoietic abnormalities or neoplasia.
Results: 1. In 37 of the 84 cases only one type of liver disease was diagnosed.
Diagnosis # of cases
Metabolic disease: 2
Bile duct paucity: 5
Ductal plate malformation: 5
Vascular anomalies: 8
2. In 47 of the 84 cases multiple hepatic diagnoses were present. The total frequencies of the categories (including single and multiple concurrent diagnoses) are represented by the pie-chart below.
Conclusions: In spite of advanced imaging techniques and other diagnostic modalities, autopsy studies in adults not infrequently uncover additional significant conditions that could have altered therapy and outcome had they been recognized earlier. Our study suggests that the perinatal autopsy also recognizes hepatobiliary conditions that are not always recognized pre-mortem and, additionally, may significantly impact genetic counseling of family members.
Monday, February 28, 2011 1:45 PM
Platform Session: Section G, Monday Afternoon