Early prenatal diagnosis of major cardiac anomalies in a high-risk population

To examine the accuracy of early fetal echocardiography performed in a high-risk population combining transvaginal and transabdominal routes.

A series of 330 high-risk pregnancies were screened by transvaginal and transabdominal scan at 12-17 weeks' gestation in a prospective multicentre trial in Spain between September 1999 and May 2001. A total of 334 fetal heart examinations were performed, including four twin pregnancies. Maternal age ranged from 17 to 46 years (mean 33 years with 36% of women over 34 years). The median gestational age at scan was 14.2 weeks (range 12-17 weeks). For each fetus, visualization of the four-chamber view, the origin of the great arteries, aortic and ductal arches and systemic venous return was attempted in a segmental approach. B-mode and colour/pulsed Doppler flow imaging were used in all cases. The duration of complete heart examination was less than 30 minutes. The examinations were performed by three experienced operators. Reliability was assessed by conventional transabdominal echocardiography at 20-22 weeks, by postnatal follow-up in the first three months of life, and/or by autopsy in cases of termination of pregnancy.

The rate of successful visualization of the fetal heart was 94.6% (316/334). In 48 out of 334 (14.4%) fetuses the final diagnosis was abnormal. In 38 out of 48 (79.2%) cases with heart defects the diagnosis was suspected at early echocardiography. In the group with congenital heart defects, 27 cases had an abnormal karyotype (56.3%) and 31 cases showed extracardiac anomalies (64.6%). There were 10 false-negative cases at early scan. There were no false-positive diagnoses.

This experience stresses the usefulness of early fetal echocardiography when performed by expert operators on fetuses specifically at risk for cardiac disease. The high rate of successful visualization of the fetal heart provides a reliable diagnosis of major cardiac defects at this early stage of pregnancy.