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Abstract
Objective: To examine the prevalence, distribution and spectrum of cardiac defects in chromosomally normal fetuses with increased nuchal translucency thickness. Patients and methods: During a 4-year period, targeted fetal echocardiography was used in 353 chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks' gestation. The cardiac scan was performed at 18-22 weeks. In the last 138 cases enrolled, an additional scan at 12-16 weeks was carried out. The follow-up included the findings at necropsy or in the pediatric examination. A complete follow-up was achieved in 97%. Results: Cardiac defects were present in 32 (9.1%) cases, increasing from 5.3% in those with a nuchal translucency thickness of ≥ 95th centile (3.9 mm) to 24% when thickness ≥ 6 mm (p < 0.001). In 31 cases (97%), the cardiac defect was diagnosed antenatally; in 24 cases (77%) this diagnosis was confirmed later. In the remaining seven cases, the autopsy examination was not available. A wide range of cardiac defects was observed, with the most common being atrioventricular septal defect and tricuspid atresia. Conclusions: Euploid fetuses with increased nuchal translucency thickness have a significantly increased risk of cardiac defects. This is a marker of different types of heart anomalies and constitutes an additional indication for targeted fetal echocardiography. Most of the cardiac defects can be detected by fetal echocardiography.