EP06.59: Prenatal diagnosis a rare case of fetal‐onset IPEX syndrome with recurrent hydrops fetalis

IPEX is an X-linked recessive immunologic disorder characterised by onset in infancy of immune dysregulation, polyendocrinopathy, enteropathy, autoimmune hemolytic anemia, and thrombocytopenia. IPEX has been reported rarely in fetuses. We present a rare case of recurrent fetal hydrops in the context of IPEX syndrome. A 33-years-old woman G4P1021, one healthy child, 2 consecutive hydrops fetalis around 16-17 weeks of gestation, was referred to our centre due to hydrops fetalis at the age of 16 weeks. Ultrasound revealed hydrops fetalis with pleural effusion, ascites, skin edema, tricuspid regurgitation without fetal anemia. Amniocentesis was performed with normal CMA. Whole exome sequencing (WES) showed that the fetus had a hemizygous mutation in FOXP3 gene inherited from the mother. This finding was consistent with clinical presentation of fetal-onset IPEX syndrome. Detection of hydrops fetalis should prompt WES to rule out IPEX syndrome especially when normal CMA. Thanks to a high recurrence risk, comprehensive genetic counselling is essential for planning care in future pregnancies. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.