Nuchal translucency measurement and congenital heart defects: modest association in low-risk pregnancies

To assess the performance of nuchal translucency (NT) measurement in the first trimester of pregnancy as a marker for congenital heart defects (CHD) in the fetus in a low-risk obstetric population.

Nuchal translucency screening was offered over a 3-year period to consecutive pregnant women without known a priori risk factors and attending midwife practices in three different areas in the Netherlands. In chromosomally normal fetuses and infants from the study population the NT measurements were matched with CHD detected either prenatally or postnatally.

NT screening was offered to 6132 women with an uptake of 83%. A total of 4876 NT measurements was performed. Pregnancy outcome data were available in 4181 cases (86%). Defects of the heart and great arteries (CHD) were diagnosed in 24 cases (prevalence 5.8/1000). Thirteen of these were classified as major (prevalence 3.1/1000). Two major CHD occurred in fetuses showing an increased NT at the first-trimester scan. The sensitivity of NT measurement > 95th and > 99th percentile for all CHD and for major CHD, was 8% and 15%, respectively. The positive likelihood ratios of NT > 95(th) and > 99th percentile for major CHD were 6, 5 and 33, respectively.

In pregnancies without known risk factors also, an increased NT is associated with major cardiac defects in the fetus and therefore represents an indication for specialized fetal echocardiography. However, this association is too weak to envisage a role for NT measurement as single screening strategy for the prenatal detection of cardiac defects.