Objective: To evaluate the effectiveness of nuchal translucency (NT) measurement in screening for major congenital heart disease (CHD) in chromosomally normal fetuses.
Design: A population based cohort study of all women having fetal NT measurement at 10-14 weeks of gestation in an unselected population over a 3-year period. The outcome measure was the identification of major CHD in chromosomally normal pregnancies either antenatally or postnatally.
Results: Major defects of the heart and great arteries were identified in 26 out of 7339 pregnancies (prevalence 3.5 per 1000 pregnancies). Out of 26 cases, only four (sensitivity 15.4%, 95% CI 4-35) were in the group of 258 pregnancies (3.5%) with increased NT of > or = 2.5 mm. The prevalence of major CHD increased from 3.1 per 1000 for NT < 2.5 mm to 50 per 1000 for NT > or = 3.5 mm (likelihood ratio of 14.1, 95% CI 4.2-47.9). The positive and negative predictive values for NT > or = 2.5 mm were 1.6% and 99.7%, respectively.
Conclusions: The prevalence of major CHD in this study was 3.5 per 1000, suggesting that ascertainment of CHD in our study population was thorough. Fetuses with NT measurements > or = 3.5 mm have a significantly increased risk of major CHD, and this identifies a subgroup of high-risk patients in whom early fetal echocardiography would be advocated. The low sensitivity of NT for major CHD in the general population, however, indicates that NT cannot be relied on as the sole or major screening tool for this condition as previously reported.