Recurrent Nonimmune Fetal Hydrops Due to a Novel Pathogenic Variant in PIEZO1 Gene: A Case Report from South India

Abstract Nonimmune fetal hydrops (NIFH) has underlying diverse etiology with generalized lymphatic dysplasia being one such cause. Lymphatic malformation-6 is a type of that due to homozygous or compound heterozygous variants in the PIEZO1 gene. The clinical features associated this condition during life are nonimmune manifests widespread edema, other systemic manifestations like pericardial/pleural effusions, chylothorax along lymphangiectasia seen primarily lungs and intestines. We present case recurrent NIFH family novel pathogenic mutation This variant was identified state all three affected fetuses both parents. couple were counseled regarding recurrence given reproductive options for future pregnancies.