P10.05: A contribution of SNP array in prenatal diagnosis in 2010–2013

Abstract

Objectives: To evaluate the prenatal sonographic and postnatal findings associated with absent ductus venosus and porto-systemic shunts. Methods: A retrospective search was conducted on databases and clinical records of patients attended in our Fetal Medicine Unit between years 2005-2013. Associated anomalies and obstetric and perinatal outcomes were recorded. Results: Seven cases of absent ductus venosus and porto-systemic shunts were identified over a 37,035 fetuses scanned. The diagnosis was made in seven cases at first trimester scan, in two at 20 weeks scan and in five in later scans. The umbilical vein was connected to the intrahepatic abdominal part of the inferior vena cava in four cases (4/7, 57.1%), in one case (1/7, 14.3%) the connection was totally extrahepatic, directly into the right atrium and in the remaining two cases (2/7, 28.3%) a mixed pattern, with a normal umbilical vein connection to the portal sinus and an aberrant extrahepatic channel into infrahepatic inferior vena cava and right iliac vein, was respectively seen. Hydropic changes, including an isolated polyhydramnios, was seen in three cases (3/7, 42.9%) and cardiomegaly in two cases (2/7, 28.6%). Hydropic changes or cardiomegaly were present in all three cases of extrahepatic shunt. Major anomalies were detected in two fetuses (2/7, 28.6%) and anomalous karyotype (Down's syndrome) in one (1/7, 14.3%). No miscarriages or postnatal deaths were detected. All but one shunts spontaneously closed in the first months after birth, and one spontaneously closed prenatally. Conclusions: Absent ductus venosus and porto-systemic shunts frequently occur in association with major fetal anomalies or chromosomal defects, so careful search for associated anomalies and fetal karyotyping should be considered. Cardiac overload and hydropic changes are also frequent. Prognosis is mainly determined by the severity of associated anomalies.