Utility of Screening Fetal Echocardiograms Following Normal Level II Ultrasounds in Fetuses with Siblings with Congenital Heart Disease.

INTRODUCTION

In pregnancies when congenital heart disease (CHD) is present in siblings, fetal echocardiograms (F-echo) are recommended, regardless if there was a prior level II ultrasound (LII-US) that was normal. The goal of this study was to evaluate if any diagnosis of a critical congenital heart disease (CHD) was missed in a fetus who had a sibling with CHD, when a normal LII-US was documented.

METHODS

Retrospective chart review of all F-echo where the indication was sibling with CHD between January 1, 2019 and December 31, 2023 was performed. Fetuses were included if they had a LII-US that was read as normal and had a F-echo. Critical CHD was defined as CHD requiring catheterization or surgical intervention < 1 month of age.

RESULTS

A total of 187 F-echo on fetuses who had a sibling with CHD were evaluated, of which 113 met inclusion criteria. LII-US was performed at 21.1 ± 3.3 weeks gestational age and F-echo was performed at 25.4 ± 3.1 weeks gestational age. No patient with a normal LII-US had a diagnosis of a critical CHD by F-echo (negative predictive value = 100%). Six patients that had a negative LII-US were diagnosed with non-critical CHD or cardiac issues postnatally (negative predictive value = 94.7%). F-echo correctly diagnosed two of the six missed LII-US CHD.

CONCLUSION

Critical CHD was not missed with a normal LII-US in this at-risk population. F-echo also missed the majority of CHD when a LII-US was read as normal. The cost/benefit of screening F-echo in fetuses with siblings with CHD should be evaluated if a normal LII-US has been performed. Larger studies are needed to determine if these findings remain consistent.