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


METHODS
Review of fetal echocardiograms 12 to 16 weeks of gestation.


RESULTS
There 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.


CONCLUSIONS
Early 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.
Children's National Heart Institute, Children's National Medical Center, Washington, DC, 20010, USA.
Jodi I
JI
Pike
Anita
A
Krishnan
Mary T
MT
Donofrio
D002309:Cardiology; D004452:Echocardiography / Q000706:statistics & numerical data*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal