Phenotypical Characterization of Patients Who Underwent Perinatal Autopsy at the Hospital Universitario San Ignacio

Abstract

Introduction: Chromosomal disorders cause a high mortality in the fetal and perinatal age group; however, cytogenetic or molecular studies are not routinely performed in our setting. Methods: Study where the morphology of patients subjected to perinatal autopsy in the HUSI during 2012 and 2013, with the diagnostic impression of chromosomal disorder, is characterized and the prenatal clinical characteristics are reviewed. Results: Forty-two cases were included. The majority of cases had placenta, corresponded to the second trimester of pregnancy (median of 15.5 weeks) and the mothers were 18-35 years old. The morphological changes predominated in the head, neck and extremities. Conclusions: The knowledge of the morphological changes from perinatal autopsy is a tool that complements the analysis of mortality in this age group.