EP465: Role of next-generation sequencing in the evaluation of families with non-immune fetal hydrops

Abstract

Fetal hydrops, which refers to the pathological accumulation of fluid in the fetal soft tissues and serous cavities, is an important cause of prenatal and perinatal morbidity and mortality. Non-immune fetal hydrops (NIFH) is an etiologically heterogeneous condition, which can occur due to genetic as well as non-genetic causes. Genetic causes for NIFH include numerical and structural chromosomal anomalies, and many different monogenic conditions including inborn errors of metabolism (IEMs), lethal skeletal dysplasias, hematological disorders, multiple malformation syndromes, etc.