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INTRODUCTION: There is increasing demand for accurate early fetal cardiac diagnosis (FCD). We assessed the accuracy of early fetal echo (EFE) conducted in our high volume fetal cardiac program and reviewed the spectrum of FCD, associated genetic anomalies and outcomes encountered. METHODS: We identified all EFE performed from 10+0-15+6 weeks of gestation from 2009-2021. We compared findings at EFE to fetal echo at ≥18+0 weeks or autopsy and documented genetic testing results for all FCD cases. For those with discrepancy between EFE and later exam, the discrepancy impact was reviewed. A score was used to quantify the anatomy assessed. RESULTS: 1662 EFE were performed in 1387 pregnancies; all but 41 were considered diagnostic. FCD was diagnosed at EFE in 130, including 101 major, 12 minor, 13 other FCD and 4 arrhythmias. In 14/130 with FCD EV imaging was undertaken which increased the score (1.6/9 vs 3.5/9 p=0.049). 35/130 had repeat EFE which increased the score (5.2/9 vs 7.4/9, p< 0.0001). Fetal loss occurred before confirmation of FCD in 16, termination in 64, and 11 were lost to follow up. Thirty-nine had autopsy and/or fetal echo ≥18+0: 35 had FCD confirmed and 4 had resolution. Of the 35 confirmed FCD, 27 had no, 7 minor and 1 major change. Of 1489 with normal EFE, later echo demonstrated FCD in 14: 3 major and 11 minor. In 16, FCD evolved including 4 arrhythmias and 12 with progressive FCD. Sensitivity, specificity, positive and negative predictive values of EFE in identifying major FCD were 92.9%, 100%, 100%, and 99.7%, respectively. In cases with FCD 85.4% had genetic testing, of whom 71% (60.8% of the total) had abnormal results. CONCLUSION: In our experience, EFE permits accurate diagnosis and exclusion of most FCD. EV imaging and repeat EFE studies improved the ability to visualise structures adequately.
RESUMO
BACKGROUND: The aim of this study was to examine the diagnostic yield of current fetal echocardiography (FE) indications representing a recent era. METHODS: FE reports of all pregnancies referred to two provincial FE programs from 2009 to 2018 were examined, identifying the indication for FE (14 categories), gestational age at referral, and whether there was no fetal heart disease (FHD), mild or possible FHD (e.g., simple ventricular septal defect, possible coarctation), or moderate or severe FHD. RESULTS: Over the study period, there were 19,310 unique FE referrals in Alberta (23.3 ± 5.4 weeks' gestation), including 1,907 (9.9%) with moderate or severe and 654 (3.4%) with mild or possible FHD. The most common referral indications included extracardiac pathology or markers (29.7%), maternal diabetes (18.3%), suspected FHD (17.7%), and family history of heart defects (17.7%). The highest yield for moderate or severe FHD was suspected FHD (41.1%; 95% CI, 39.4%-42.7%), followed by suspected or confirmed genetic disorder (15.4%; 95% CI, 12.6%-18.2%), twins or multiples (10.6%; 95% CI, 8.7%-12.5%), oligohydramnios (8.0%; 95% CI, 4.1%-11.9%), extracardiac pathology or markers (6.4%; 95% CI, 5.8%-7.1%), and heart not well seen (5.8%; 95% CI, 4.0%-7.6%). Lowest yields were observed for maternal diabetes (2.2%; 95% CI, 1.7%-2.7%) and family history of heart defects (1.7%; 95% CI, 1.3%-2.2%). Excluding suspected FHD, with two or more FE indications, all other indications demonstrated significant increases in yield of mild or possible (3.5% vs 1.9%, P < .001) and moderate or severe (7.2% vs 2.9%, P < .001) FHD. CONCLUSIONS: Suspected FHD provides the highest diagnostic yield of moderate or severe FHD. In contrast, maternal diabetes and family history of heart defects, among the most common referral indications, had diagnostic yields approaching general population risks. Even in the absence of suspected FHD, having two or more referral indications importantly increases the diagnostic yield of all other FE indications.