Increased nuchal translucency and distended jugular lymphatic sacs on first-trimester ultrasound

Objective: To investigate the presence and volume of jugular lymphatic sacs (JLS) in first-trimester fetuses with normal nuchal translucency thickness (NT) and in those with increased NT. Methods: This was a prospective study of 26 fetuses with NT > 95^th percentile, which were compared with 137 fetuses with normal NT. Following crown-rump length (CRL) and NT measurement the neck region of the fetus was studied by transvaginal ultrasound. The JLS presented as spheroidal translucencies in the anterolateral region of the neck. Results: The prevalence of JLS differed significantly between fetuses with enlarged NT and the control group (P < 0.0001). In the group of 26 fetuses with increased NT, 22 had clearly visible JLS. Chorionic villus sampling revealed aneuploidy in 10 and euploidy in 16 fetuses. In the control group two fetuses, with NT values of 2.8 mm and 2.9 mm, had JLS; pregnancy outcome was normal in both cases. Logistic regression analysis in the total study group showed that an increase in NT was associated with a greater probability of JLS being present (for NT = 3-3.5 mm, probability = 0.67; for NT > 3.5 mm, probability = 0.93). In fetuses with JLS, an increase in CRL was associated with a significant increase in right JLS volume (r = 0.51; P-value = 0.01) and a non-significant increase in left sac volume (r = 0.40; P-value = 0.09). Increase in NT was not associated with a significant increase in JLS volume. Conclusion: There is a significant association between increased NT and the presence of JLS on first-trimester ultrasound. In our opinion, the pathophysiological explanation for increased NT lies in a disturbance in lymphangiogenesis.