Objective: To test the hypothesis the application of ductus venosus Doppler velocimetry may serve as a screening tool between 10 and 14 weeks’ gestation for the detection of fetuses with chromosomal abnormalities. Methods: 372 consecutive fetuses were studied. Based on prior study, a chromosomal abnormality was suspected when either the nuchal translucency was above the 95th centile, or there was reversed or absent flow in the ductus venosus during atrial contraction. Sensitivity, specificity, and the negative and positive predictive values were calculated. Results: There were 29 chromosomally abnormal fetuses. Of these 29 fetuses, ductus venosus blood flow during atrial contraction was either absent (n = 2) or reversed (n = 25) in 93.1%. In the chromosomally normal fetuses (n = 343), only 6 (1.7%) had abnormal Doppler profiles in the ductus venosus (specificity = 98.3%, positive and negative predictive values = 81.8% and 99.4%, respectively). Conclusion: The Doppler waveform of the ductus venosus was at least equal to NT thickness measurement for the detection of chromosomal abnormalities.

This report describes a case of reverse flow in the umbilical vein and ductus venosus during atrial contraction of a fetus at 12 weeks of gestation with increased nuchal translucency (9.1 mm). In addition, Doppler velocimetry detected high retrograde flow in the inferior vena cava. Cytogenetic analysis of chorionic villi revealed trisomy 9. We suggest that these findings may be a first trimester sign of chromosomal and cardiac abnormalities in the fetus.

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