Agenesis of ductus venosus in sequential first and second trimester screening

The goal of this study is to evaluate the potential of first trimester (FT) screening in the diagnosis of agenesis of the ductus venosus (ADV) and to study its prevalence in a low-risk population, the associated conditions, and pregnancy outcome.

Prospective, sequential screening study at two tertiary units with morpho-functional evaluation of the ductus venosus during the first and second trimester screening. We quantified the FT detection rate, prevalence, and associated conditions: umbilical shunting type, concomitant anomalies, and outcome.

In 6114 consecutive pregnancies, we identified 11 cases of ADV. Ten (91%) were identified during the FT examination. The prevalence was 1 in 556, similar for both centers (1/478 vs. 1/691). Major structural defects and fetal effusions were detected in 8 (73%). twenty two percent had a major chromosomal abnormality. In 3 cases, the anomaly was isolated and had normal outcome, independent of liver by-pass, caliber of the shunt, and NT thickness.

Agenesis of the ductus venosus can be detected during FT. The early detection of ADV is important given its high association with major abnormalities.