Application of Ductus venosus Doppler Velocimetry for the Detection of Fetal Aneuploidy in the First Trimester of Pregnancy

Abstract

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.

Is the Addition of the Ductus Venosus Useful when Screening for Aneuploidy and Congenital Heart Disease in Fetuses with Normal Nuchal Translucency?

“…Our results showed that, despite the findings of previous publications [7,11,13,25,34], DVPI has a poor performance in the prediction of CHD and fetal aneuploidies in fetuses with normal NT.…”

“…Focusing on this second group, we found different interesting reports: Murtha et al [7] reported that an abnormal DV waveform would detect 93% of chromosomally abnormal fetuses and that 4 of 10 cases with normal NT and abnormal DV waveforms had chromosomal abnormalities. On the basis of their results, they recommended that patients be offered karyotype testing even if the NT is normal, even though other studies did not recommended it.…”

“…In qualitative analysis, absence or reversal of the a-wave (DV-RAV) is regarded as abnormal. Using either approach, abnormal flow in the DV at 11 +0 –13 +6 gestational weeks has been associated with an increased risk of CHD and chromosomal abnormalities [4,5,6,7,8,9,10]. …”

The assessment of nuchal translucency and serum markers for down syndrome screening with ductus venosus Doppler measurements in the first trimester

“…Also, the addition of PI to NT alone will increase the detection rate from 76 to 85%, and, combined with serum markers, from 88 to 92% (8). Murta et al analyzed absent or reversed flow during atrial contraction in 93.1% of chromosomally abnormal fetuses (32). However, abnormal ductal blood flow was observed in 5.2% of euploid fetuses and 70.8% of fetuses with Tri21 (6).…”

Impact of Ductus Venosus Assessment in Screening Down Syndrome Protocols: An Improved Strategy in a Fetal Medicine Unit

“…[1][2][3][4] Recently, several studies have demonstrated an increased impedance to flow in the ductus venosus at the 11 to 13 +6 weeks' scan in DS fetuses. [5][6][7][8][9][10][11][12] Therefore, ductus venosus (DV) Doppler studies could be used to modify the estimated DS risk either selectively in women referred because high-risk for this condition as a secondary screening method, [5][6][7]11,[13][14][15] or incorporated routinely into existing screening protocols as a primary screening method. 6,9,12 Technical difficulties in DV assessment have been postulated as the main limitation to incorporate this marker as a first line screening test to evaluate individual DS risk in combination with NT, although competence in Doppler assessment of the DV can be achieved after extensive supervised training.…”