Fetal cardiac defects and increased nuchal translucency thickness: A prospective study

Objective The purpose of this study was to examine prospectively the association between increased nuchal translucency thickness and major cardiac defects in chromosomally normal fetuses. Study design A prospective cohort study of 263 chromosomally normal fetuses with an increased nuchal translucency thickness at 11 to 14 weeks of gestation at a tertiary referral center was performed. The incidence of major cardiac defects was examined in relation to the fetal nuchal translucency thickness at the 11 to 14 week ultrasound examination. Results The nuchal translucency thickness measurements ranged from 2.2 to 8.0 mm (median, 3.1 mm). There were 13 cases of major cardiac defects in this cohort, which gave a prevalence of 49.4 of every 1000 fetuses. With the use of the 99th percentile of nuchal translucency thickness, the prevalence rose to 106.7 of every 1000 fetuses. Conclusion In this population of chromosomally normal fetuses with an increased nuchal translucency thickness, the incidence of cardiac defects was high, which suggests that fetal echocardiography is indicated in this group.