Objective: To determine the efficacy and yield of tertiary center fetal echocardiography for different high-risk groups.
Methods: Between January 1, 1982, and January 1, 1994, scans for anomalies were performed on 3246 women at increased risk for congenital heart disease in their offspring. Gestational age was 16-25 weeks in 83%. Maternal and gestational age as well as prenatal and postnatal diagnosis were recorded, and follow-up was sought for all pregnancies. By comparing prenatal and postnatal diagnoses, sensitivity, specificity, and predictive values were estimated. Multiple logistic regression was applied to establish the relative yield within the high-risk group.
Results: Follow-up was available in 3223 cases (99%). In a separate validation study of 777 women for whom a second set of follow-up data was requested, no additional anomalies were revealed. In total, 20 of 47 cases of cardiac malformations were detected (sensitivity 43%). When taking into account cases that remained undetected because of unfavorable scanning conditions (ie, minute size of the anomaly, awkward fetal position, or severe maternal obesity), the sensitivity for congenital heart disease rose to 51%. Specificity and predictive values were high (above 95%). The relative yield across the high-risk group appeared to be high for parental congenital heart disease and maternal diabetes mellitus, whereas a previous infant or other relatives affected, maternal anti-epileptic drug use, maternal drug abuse, and other reasons for referral each had an estimated yield approximately equal to the prevalence of congenital heart disease in the general population (0.8%).
Conclusion: Fetal echocardiography for known increased risk appears to be moderately effective. Clear differences in yield are present across currently accepted risk categories.