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

Objective: The aim of the study was to improve nuchal translucency (NT) and serum marker Down syndrome (Tri21) screening methods by including fetal ductus venosus (DV) Doppler measurements.
Material and Methods: A total of 213 pregnant women were screened consecutively by combining maternal age, fetal NT and maternal serum pregnancy associated plasma protein A (PAPP-A) and free β-human chorionic gonadotropin (f β-HCG) values at 11-14 weeks of gestation. Also, a DV Doppler analysis was performed for the contribution to the screening for Tri21 and other fetal anomalies or adverse pregnancy outcomes.
Results: Twelve fetuses had DV PI measurements above the 95th percentile and two (17%) developed intrauterine growth retardation. DV PI values negatively correlated with birth weight (p=0.013, r=0.171). Two patients had T 21 among the study group (0.9%) with abnormal biochemical screening results. In these with Tri21, the combined test risk was above the suggested limit (>1/250). PAPP-A was <0.4 MoM in 23, and f β-HCG was >1.91 MoM in 49 patients. The rates of false positivity were 10% for PAPP-A and 22% for f β-HCG. The sensitivity, specificity, positive and negative predictive values of the combined test was 100%, 95%, 20% and 100%, respectively.
Conclusion: The combined test has high sensitivity and specificity for Tri21 detection. The addition of DV Doppler ultrasound in the first trimester might have the advantage of predicting some adverse pregnancy outcomes. However, in the Turkish population, further studies with larger numbers of patients will be needed to establish the usefulness of DV for the detection of Tri21 or the prediction of some major cardiac anomalies.