Objective: To evaluate the clinical impact of fetal echocardiography before 16 weeks’ gestation on the management of pregnancies with fetuses at risk of congenital heart disease.
Design and setting: Observational study in a fetal medicine unit.
Participants and methods: 222 consecutive women with high risk pregnancies (230 fetuses) underwent transabdominal fetal echocardiography at a median gestation of 14+1 weeks. For 10%, transvaginal scans were also performed. Criteria for normal scans were normal sequential segmental analysis, symmetrical four chamber view, normal semilunar valves, arterial outflow tracts, and ductal and aortic arches. Early scans were compared with mid-second trimester fetal echocardiography. Postmortem and postnatal data were added. Adverse pregnancy outcomes were diagnosis of a major cardiac or extracardiac abnormality, chromosomal defects, intrauterine death, or termination of pregnancy.
Results: There were 21 abnormal cardiac scans (9%): 14 major structural defects (eight isolated, six with chromosomal or extracardiac abnormalities) in pregnancies resulting in three live births, one intrauterine death, and 10 terminated pregnancies. Seven scans showed asymmetry between right and left sided structures (two isolated, five with chromosomal or extracardiac abnormalities); six of the seven pregnancies were terminated. The scans were normal in 199 cases (87%). Cardiac follow up of 184 of 199 babies (93%) confirmed situs and connections. One case each of pulmonary stenosis and ventricular septal defect requiring postnatal intervention were diagnosed at later scans. In 28 of 199 (14%) babies there was a non-cardiac adverse outcome. First examination was not diagnostic for 10 (4%).
Conclusion: Early fetal echocardiography in high risk pregnancies was diagnostic in 96%. Abnormal cardiac scans (isolated in 48%, major structrual defects in 67%) led to termination of pregnancy in 76%. Most cardiac scans were normal, allowing family reassurance. The high number of adverse outcomes with normal cardiac anatomy stresses the need for a multidisciplinary approach to early fetal echocardiography.
Keywords: echocardiography, heart defects, congenital heart disease, diagnosis, pregnancy