Efficacy of routine fetal ultrasound screening for congenital heart disease in normal pregnancy

Background Second trimester routine ultrasound evaluation of the fetal heart by means of the four-chamber view has been proposed for prenatal detection of cardiac anomalies. The aim of this study was to evaluate the efficacy of this procedure. Methods and Results A prospective follow-up study on 6922 scanned fetuses was performed. Pregnant women without known risk factors who were scheduled for a routine fetal ultrasound examination between 16 and 24 weeks gestation were invited to participate. Follow-up until 6 months postpartum was available for 5660 subjects (81.8%), of whom 5319 fulfilled all eligibility criteria. By comparing the prenatal diagnosis to the postnatal diagnosis, we obtained sensitivity, specificity, and predictive value (positive and negative). A total of 80 cases of congenital malformations were diagnosed during the study: 44 casks of congenital heart disease, 40 cases of noncardiac malformations, and a combination of the two in 4 cases, The fetal four chamber-view examination was considered abnormal in 7 women who were subsequently referred for extensive fetal ultrasound examination. Two proved to be carrying an affected fetus. Similarly, prenatal referral of 14 women because of suspected noncardiac malformations yielded 12 such cases. The fetal four chamber-view examination had a sensitivity of 4.5% (95% CI, 0.6% to 15%). Sensitivity for noncardiac anomalies was 30% (95% CI, 16.6% to 46.5%). Overall sensitivity of ultrasound examination was 16.3% (95% CI, 2.09% to 48.8%). Specificity and negative predictive value were high (> 98%). The positive predictive value was low with wide CIs. Conclusions These results suggest that the current mode of routine prenatal ultrasound screening for congenital malformations is inefficient, particularly for cardiac anomalies.