Performance of first-trimester fetal nuchal translucency, ductus venosus, tricuspid regurgitation in diagnosing congenital heart defects: A systematic review and meta-analysis

Congenital heart disease (CHD) is the main cause of perinatal morbidity and mortality. Nuchal Translucency (NT), Ductus Venosus (DV), and Tricuspid Regurgitation (TR) have shown potential in CHD detection.

We evaluated the pooled diagnostic test accuracy of these markers during the first-trimester screening.

PubMed, Scopus, Web of Science, and Embase were searched. A bivariate random effects model created Summary Receiver Operating Characteristic (SROC) curves and the pooled sensitivities and specificities. Forty-two studies were included. For major CHDs, the pooled sensitivities and specificities were 43.1 % (95 % CI: 35.0 %–51.6 %) and 95.5 % (95 % CI: 93.5 %–96.9 %) for A/R DV a wave, 57.8 % (95 % CI: 43.3 %–71.0 %) and 88.8 % (95 % CI: 77.7 %–94.7 %) for abnormal DV-PIV, 37.0 % (95 % CI: 26.6 %–48.6 %) and 97.7 % (95 % CI: 94.6 %–99.1 %) for TR, 41.4 % (95 % CI: 23.2 %–62.2 %) and 93.7 % (95 % CI: 92.7 %–94.6 %) for NT > 95th percentile, and 26.6 % (95 % CI: 11.0 %–51.7 %) and 98.3 % (95 % CI: 97.5 %–98.9 %) for NT > 99th percentile. For the combined models in detecting major CHDs, the highest specificity of 97.8 % (95 % CI: 93.9 %–99.2 %) belonged to NT > 95th percentile and A/R DV a wave. The most sensitive tests were the combination of NT > 95th percentile or A/R DV a wave or TR 61.4 % (95 % CI: 49.7 %–71.9 %). Combining increased NT with the presence of A/R a-wave can help diagnose CHD, while normal NT, A/R DV a wave, and TR indicate lower CHD risk.