Fetal pathology meets clinical genetics – on the value of a comprehensive postmortem examination

Abstract For a long time, a comprehensive postmortem examination has been the most important investigation in unexplained fetal and neonatal deaths. In recent years, the usefulness of autopsy has been questioned due to the availability of improved prenatal imaging techniques and genome-wide sequencing that allow an early prenatal diagnosis of an increasing number of disorders. While concordance rates of prenatal ultrasound and postmortem findings are high, fetal autopsy may provide additional information in many cases and allow more accurate counseling of parents regarding the recurrence risk and management in future pregnancies. In this article, we provide a brief outline of a systematic fetal and placental evaluation by pathology and clinical genetics. Based on selected cases, the advantages of a comprehensive postmortem evaluation will be illustrated with emphasis on its role in quality control of prenatal ultrasound after termination of pregnancy, comprehensive and deep phenotyping, the interpretation of genetic variants and its high educational value.