First-trimester fetal cardiac examination using spatiotemporal image correlation, tomographic ultrasound and color Doppler imaging for the diagnosis of complex congenital heart disease in high-risk patients

Objective A four-dimensional (4D) fetal echocardiographic technique utilizing spatiotemporal image correlation, tomographic ultrasound imaging display (STIC-TUI echo) and color Doppler has previously been shown to be effective in displaying the examination planes constituting the extended cardiac examination. The aim of this study was to evaluate the performance of this first-trimester STIC-TUI echo technique in identifying complex congenital heart disease (CHD) in high-risk pregnancies.

Methods This was a prospective study of patients presenting at first-trimester screening who were at high risk for CHD owing to pregestational diabetes, in-vitro fertilization (IVF), increased nuchal translucency (NT) thickness, first-trimester tricuspid regurgitation or reversed ductus venosus (DV) a-wave, a previous child with CHD or who were on anticonvulsant medication. First-trimester STIC-TUI echo was performed, and the findings were correlated with second-trimester echocardiography and post-delivery echo findings in survivors.

Results One hundred and sixty-four fetuses from 152 patients were enrolled (77 diabetics, 38 IVF, 14 with increased NT, 23 cases of tricuspid regurgitation or reversed a-wave in the DV, 22 with prior CHD and two on anticonvulsants). STIC-TUI echo was abnormal in 20 (12%), showing atrioventricular canal defect (n = 9), hypoplastic left heart (n = 2), pulmonary stenosis (n = 2), right aortic arch (n = 1), interrupted aortic arch (n = 1), tricuspid atresia (n = 1), heterotaxy (n = 1), persistent truncus arteriosus (n = 1), double outlet right ventricle and ventricular septal defect (n = 1) and double inlet ventricle with transposition of the great arteries (n = 1). 85% of these anomalies were evident in the four-chamber view plane of the TUI display, and the remainder were diagnosed in the outflow tract planes with color Doppler imaging. In 13, CHD was isolated while seven had extracardiac anomalies. Thirteen fetuses had aneuploidy and all 13 underwent first-trimester termination of pregnancy. In the remaining seven, second-trimester echocardiography and neonatal echo/postmortem examination confirmed anomalies (two stillborn neonates, one neonatal death, four live births). Two cases of CHD missed by first-trimester STIC-TUI echo were diagnosed on second-trimester echo. Accordingly, first-trimester STIC-TUI echo had 91% sensitivity and 100% specificity for the detection of CHD.

Conclusions First-trimester 4D echocardiography using a standardized application of STIC, TUI and color Doppler imaging is effective in displaying the imaging planes that are necessary for achieving the diagnosis of complex cardiac anomalies in high-risk patients. Optimal imaging of the four-chamber view with two-dimensional ultrasound is the major determinant of successful volume acquisition.