VP32.10: Identification of a de novo mutation of ENG gene in a fetus with pulmonary arteriovenous fistula in a Chinese family

Pulmonary arteriovenous fistula or malformation (PAVM) is the direct communication of pulmonary artery system or venous system bypassing the capillary. PAVM is a progressive disease associated with hereditary hemorrhagic telangiectasia (HHT) and it's rarely seen in fetus. Prenatal ultrasound examination has been performed on the pregnant patient. Magnetic resonance imaging (MRI) has been performed on the aborted fetus. Clinical whole-exome sequencing (WES)-trio test were conducted in the family members including fetus, father and mother. Here we report on a 31-gestational week pregnant woman prenatally diagnosed with PAVM through ultrasound examination. The pregnant patient and her husband chose to abort the fetus. PAVM has been confirmed by MRI on the aborted fetus with consent of parents. WES-trio result show a novel de novo mutaiton ENG, c.245_246delTC (p.Leu82Profs*66) was identified in the fetus. In conclusion, a novel de novo mutation of ENG was identified in a PAVM fetus. Contrary to conventional perceptions, the causative gene of HHT can lead to fetal PAVM.