Early fetal echocardiography: congenital heart disease detection and diagnostic accuracy in the hands of an experienced fetal cardiology program

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ObjectiveEvaluate the utility of early fetal echocardiography in the hands of an experienced fetal cardiology program for detection of congenital heart disease (CHD) in high-risk pregnancies.MethodsReview of fetal echocardiograms 12 to 16 weeks of gestation.ResultsThere were 151 studies in 142 fetuses (mean age 14.5 weeks). Transabdominal imaging was sufficient for 104; transvaginal imaging was used in 38. CHD was found in 32(22.5%). High yield indications were suspected cardiac anomaly (91.7%) and extracardiac anomaly (50%). Lower yield indications were increased nuchal translucency (13.8%) and family history (6.1%). No fetuses referred for advanced maternal age, maternal lupus, or diabetes had CHD. Mid-gestation follow-up was possible in 128 (ten terminated/four lost to follow-up). Three of 19 initially diagnosed with CHD had normal hearts; none diagnosed as normal had CHD (sensitivity 100%/specificity 97.3%). Seven had modification of original diagnoses: three initially diagnosed with possible septal defects had no defect, two had diagnoses that changed, and two had progression different than predicted.ConclusionEarly fetal echocardiography performed in an experienced fetal cardiology program accurately identifies significant CHD. Appropriate referral indications to fetal cardiac specialists include suspected CHD, extracardiac anomaly, increased nuchal translucency, and significant family history. Lesions that may not be diagnosed with accuracy include septal defects and diseases that progress. © 2014 John Wiley & Sons, Ltd.What's already known about this study?Fetal echocardiography is feasible early in gestation.Reports of experience with early fetal heart imaging in the United States from obstetrics/maternal–fetal medicine imaging laboratories suggest that, in most fetuses, imaging of the four chambers and outflow tracts is possible.What does this study add?Report of usefulness of early fetal echocardiography in an experienced fetal cardiac center.Recommendations of high-risk groups that might benefit from referral to a fetal cardiac specialist for early fetal echocardiogram.

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