Fetal cardiac abnormalities identified prior to 14 weeks' gestation

Objective: An increasing number of patients are presenting at early gestational age as being at high risk for congenital heart disease, as a result of ultrasound screening by nuchal translucency. The feasibility and accuracy of fetal echocardiography was assessed in a series of pregnancies studied before 14 weeks' gestation. Methods: Echocardiography was attempted in 478 fetuses of crown-rump length 40.0-85.0 mm (median, 60.3 mm) with increased nuchal translucency, suspected abnormalities on routine scan or a family history of heart defect. The findings were related to results of autopsy, karyotyping, later scans and postnatal follow-up. Results: Satisfactory images were obtained transabdominally in 402/478 (84.1%) and transvaginally in a further 13 patients. Cardiac defects were confidently identified in 60 fetuses and abnormalities of uncertain significance (isolated ventricular or great artery disproportion, or tricuspid regurgitation) were observed in a further 49. Defects were suspected in an additional 20 fetuses, and 286 were passed as normal. The karyotype was subsequently demonstrated to be abnormal in 70/286 (24.5%) fetuses with normal echocardiograms, and in 94/129 (72.9%) with abnormal or suspicious cardiac findings. Validation of the scan findings was possible in 241 fetuses. Normal heart structure was confirmed in 204 fetuses, and previously unsuspected cardiac abnormalities revealed in nine. Heart defects were verified in 28 fetuses, but five of these had important additional findings. There were false positive findings in three fetuses. Conclusions: Fetal echocardiography is feasible prior to 14 weeks' gestation. Cardiac defects, when present, may be identified or suspected in the majority of cases. In the risk group studied, heart defects were frequently a manifestation of chromosomal abnormality