The accuracy of fetal echocardiography in the diagnosis of congenital heart disease

The accuracy of the echocardiographic diagnosis of fetal heart disease in an experienced centre was evaluated by analysing the results achieved during 1987 at the Perinatal Cardiology Unit, Guy's Hospital. In this one year, 978 high-risk patients were referred for fetal echocardiography. Of these, 74 cases were found to have cardiac malformation, 69 of which were predicted from the prenatal study. Of the 69, the autopsy specimen was available for correlative purposes in 41 cases. A postnatal echocardiogram was performed by us in a further 15 cases. The result of autopsy or of a postnatal echocardiogram was obtained from another hospital in 7 cases. Postmortem was refused in 5 cases, while one further case remains alive but has not had a postnatal echocardiogram. Close correlation was achieved between the predicted echocardiographic diagnosis and the anatomical results. Some minor errors in the complete interpretation of a defect were found, particularly in those fetuses in whom image quality was poor, due to early (34 weeks) gestation or to maternal obesity. Difficulty in echocardiographic interpretation was also experienced in unusual defects. There was one false positive prediction of coarctation of the aorta. One major (total anomalous pulmonary venous drainage) and 5 minor abnormalities (two atrial and three ventricular septal defects) detected after birth were overlooked on the fetal study. Although the echocardiogram in prenatal life is not as accurate as it can be postnatally, with suitable experience a high degree of precision can now be achieved.