First trimester severe ductus venosus flow abnormalities in isolation or combination with other markers of aneuploidy and fetal anomalies.

Abstract

Altered flow in ductus venosus (DV) may be caused by the changes in preload or afterload. Its association with aneuploidy and congenital heart defects (CHDs) was widely described. The aim of this study was to examine the incidence of a reversed a-wave in DV flow (revDV) and the absence of DV (noDV), their coincidences with other markers of aneuploidy or fetal abnormalities in a mixed-risk population. The study group covered women who underwent an ultrasound scan between 11+0 and 13+6 weeks' gestation. Applied inclusion criteria: Singleton pregnancies with known pregnancy outcome and a crown-rump length of 45-84 mm. A total of 5811 cases, including 137 aneuploidies, met the inclusion criteria: 35 subjects of noDV, 189 of revDV and 5587 of normal DV flow. The incidence of noDV in euploidy was 0.47%, and in aneuploidy 5.8%. The incidence of revDV in euploidy was 2.46%, and in aneuploidy 35.7%. Among aneuploidy, the highest prevalence of noDV was found in monosomy 45X. revDV showed the highest prevalence in trisomy 18. Isolated noDV was only found in euploidy. Isolated revDV subjects were only observed in euploidy and trisomy 21. Any combination of revDV with additional markers showed high incidence in major trisomies. Extracardiac anatomy and abnormal cardiac findings showed a higher prevalence in noDV and revDV cases. The presence of noDV might be useful in suspicion of monosomy X among cases with increased nuchal translucency, as well as in differentiating them from other aneuploidies. The combinations of aneuploidy markers with revDV are strong indicators of aneuploidy. revDV alone is a poor screening tool for aneuploidy and euploidy with CHD.