Speaker

Dr. Chayada Tangshewinsirikul

Assistant Professor of Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology,

Faculty of Medicine Ramathibodi Hospital, Mahidol University, Thailand

Speaker's Biography

Dr. Chayada Tangshewinsirikul graduated from the Faculty of Medicine, Chiangmai University, Thailand, in 2008. She has been certified by the Thai Board of Obstetrics and Gynecology and subspecialty in Maternal and Fetal Medicine since 2014. She broadened her horizons as a research fellow at the Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School. Her current position is an Assistant Professor in the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Thailand. Her research interests include fetal imaging, prenatal carrier screening, and prenatal diagnosis.

Topic

Clinical Utility of Molecular Autopsy by Exome Sequencing in Fetuses with Structural Anomalies

Abstract

Exome sequencing (ES) facilitates the genetic diagnosis of fetal structural anomalies. As reported in the recent cohort series, the diagnostic yield of prenatal ES ranges between 6.2% and 80%. This diagnostic tool allows more accurate predictions of fetal prognosis and facilitates management plans during the antenatal and postnatal periods. However, precise interpretation using a fetal phenotype based on prenatal ultrasound appearance alone has been challenged.  

Prenatal ultrasound, postnatal and postmortem phenotyping, and molecular autopsy by ES, improve the identification of genetic disorders in fetuses with structural abnormalities. The use of ES in fetuses after the termination of pregnancy or after neonatal or infant death has been reported to give a diagnostic yield of 12%-57% in small cohort studies. The genetic findings assist in assessing the precise genetic etiologies of fetal or neonatal death, parental carrier status, recurrent risk, and reproductive planning in subsequent pregnancies, including preimplantation genetic testing and prenatal diagnosis. Moreover, the results from molecular autopsies can expand knowledge of genotype-prenatal phenotype correlations.