First trimester screening for major cardiac defects based on the ductus venosus flow in fetuses with trisomy 21

To examine whether in fetuses with trisomy 21 (T21), the ductus venosus (DV) flow differs in presence of a major cardiac defect (congenital cardiac defect [CHD]) and whether this affects the risk distribution in first trimester screening for T21.

This retrospective study included pregnant women who underwent first trimester screening. This involves an examination of the crown-rump length, the nuchal translucency, the ductus venosus (DV) flow, and the heart. Three groups of fetuses were examined: euploid without CHD, T21 with CHD, and T21 without CHD. We examined the DV pulsatility index for veins, the direction of the a-wave, and ratios of velocities: v/S, v/D, a/S, a/D, and S/D.

The study population consisted of 410 euploid fetuses and 136 with T21 (51 with CHD and 85 without CHD). In the 3 groups, the a-wave was reversed in 3.2%, 66.7%, and 57.6%. The DV flow ratios in T21 with and without CDH were significantly different compared with normal fetuses. When comparing the ratios between the 2 T21 groups, only the a/S and a/D ratio were significantly different. The risk distributions in screening for T21 with and without CDH were similar.

There are some small differences in the DV flow of T21 fetuses with and without CHD, but they are not clinically useful.