EP09.28: Fetal diagnosis of agenesis of the ductus venosus and perinatal outcomes

To describe the fetal echocardiographic characteristics of agenesis of the ductus venosus (ADV), their clinical evolution, and corresponding perinatal outcomes. In this single-center case series, we included patients diagnosed with ADV from January 2017 through April 2023. Of 2,775 patients evaluated during this period in the fetal cardiology unit at our quaternary center, 17 had ADV (0.6%). The median gestational age at the time of diagnosis was 27 weeks. Only two patients underwent first trimester ultrasound neither of them was diagnosed until the second trimester. The most frequent type of drainage was the intrahepatic variety in 76.5% and extrahepatic in 23.5%. Only two patients had chromosomal abnormalities, although not all underwent genetic testing. In the intrahepatic variety, 11.8% had genetic abnormalities. Of the 4 patients with extrahepatic variety one died secondary to pulmonary hypertension. 13 were the patients with intrahepatic variety, of which one died in utero at 31 weeks of gestation secondary to heart failure and chromosomal disease since she had a diagnosis of Turner Syndrome, severe hypoplasia of the aortic arch and cystic hygroma with fetal hydrops. In 11.8% the pregnancy was terminated, and the median gestational age was 20 weeks. Two patients died within hours of life, one with a diagnosis of tracheal atresia and the other one with pulmonary hypoplasia with pleural effusion. 8 patients were born and remained alive during follow-up. 100% of patients with agenesis of the ductus venosus extrahepatic variety had pulmonary hypertension. Mortality rates were 25% in the extrahepatic variety and 20% in the intrahepatic variety. Extracardiac malformations were more common in patients with intrahepatic ADV. ADV is a rare congenital anomaly; in our series, the intrahepatic type was more frequent. Since our institution is a referral center, a late diagnosis of ADV was common. Furthermore, pulmonary hypertension was the most prevalent comorbidity in patients with extrahepatic ADV.