Routinematig uitgevoerde prenatale echoscopische diagnostiek van aangeboren hartafwijkingen onvoldoende effectief

Objective. To evaluate second trimester routine ultrasound examination of the foetal heart by means of the four-chamber view for prenatal detection of cardiac anomalies. Design. Prospective and descriptive. Setting. Erasmus University Medical School Rotterdam, the Netherlands. Method. Pregnant women without known risk factors for congenital heart disease scheduled for routine foetal ultrasound between 16 and 24 weeks gestational age in 15 ultrasound units in Rotterdam were invited to participate. Of 6,922 foetuses scanned 5,660 (81.8%) were available for follow-up until six months post partum. All eligibility criteria were met in 5,319. By comparing prenatal diagnosis with the postnatal diagnosis, sensitivity, specificity and positive and negative predictive values were determined. Results. A total of 80 detectable anomalies occurred, 44 cardiac anomalies, 40 non-cardiac anomalies and a combination in 4 cases. Of 7 women referred on account of an abnormal four-chamber view two proved to carry an affected foetus. Similarly, 14 women referred on account of suspected non-cardiac anomalies yielded 12 cases. The foetal four-chamber view had a sensitivity of 4.5% (95% confidence interval (95% CI): 0.6 to 15%). For non-cardiac anomalies the sensitivity was 30% (95% CI: 17 to 47%). Specificity and negative predictive value were high (99%). Positive predictive value was low with a wide confidence interval. Conclusion. The current mode of routine foetal ultrasound examination is inadequate, especially for prenatal detection of congenital heart disease.