Early diagnosis of trisomy 21, trisomy 18 and trisomy 13 using nuchal translucency thickness and ductus venosus blood flow waveform in West China.

Abnormal nuchal translucency (NT) thickness and ductus venosus (DV) blood flow have been associated with trisomy 21, 18 and 13. However, the association of abnormal DV with these aneuploidies varies among clinical studies. The present study examined the possibility of using NT combined with DV for the early diagnosis of the three aforementioned aneuploidies in the Western Chinese population, focusing on three aspects: Biological pathway analysis, theoretical statistical analysis and clinical data analysis from 1,962 first‑trimester pregnant women from Western China. The pathway and statistical analyses performed suggested the reliability of integrating NT and DV in the prediction of the three aneuploidies. The clinical data analysis suggested that integrating NT and DV, compared with NT alone, resulted in increased predictive power (34.09 vs. 22.45%), better rejection probability (0.21 vs. 0.44%), increased specificity (96.71 vs. 94.07%) and increased sensitivity (89.47 vs. 80.49%). The present results suggested the reliability of integrating NT and DV for the early diagnosis of trisomy 21, 18 and 13 for the Western Chinese population. The present results provided novel statistical analyses to the field of prenatal diagnosis in the Western Chinese population.