Akademik Veri Yönetim Sistemi
Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi, cilt.11, sa.1, ss.82-89, 2022 (Hakemli Dergi)
Molecular autopsy is defined as whole exome/genome sequencing (WES/WGS) performed on DNA samples in the postmortem period to clarify the genetic etiology in patients who demised without a diagnosis. With this study, we aim to present our experience with postmortem WES/WGS analysis, in a group of pediatric patients to increase the knowledge on the clinical utility of molecular autopsy and its effect on genetic counseling. A retrospective cohort study was conducted on postmortem WES/WGS analysis records performed between 2017-2021 in Acibadem University Department of Pediatric Genetics. Clinical data and analysis results of patients who died in the perinatal/infancy period without a molecular diagnosis were collected from medical records. A total of 16 cases were included in the study. In 56% of the cases, molecular autopsy revealed a diagnosis. In 10 genes (BBS9, BRAF, SLC12A1, PIEZO1, WDR62, ERCC8, NDUFAF2, RAG1, MOGS, ETFB), 12 variants were detected. Fifty percent of these variants were novel, reported for the first time with this study. Inborn diseases of metabolism (33%) and neurologic disorders (22%) were the most common disease groups. Our results show that WES/WGS analysis yields a high diagnostic rate in the postmortem period. The diagnosis elucidated by molecular autopsy provides invaluable information for the family who has experienced a loss. The identification of the underlying genetic cause enables the family to plan for future pregnancies. Diagnosing a fetus or an infant who was lost without a specific diagnosis helps identify novel genes and further delineate perinatal lethal phenotypes related to known genes.