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Introduction <p>In pregnancies when congenital heart disease (CHD) is present in siblings, fetal echocardiograms (F-echo) are recommended, regardless if there was a prior level&#xa0;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.</p> Methods <p>Retrospective chart review of all F-echo where the indication was sibling with CHD between January&#xa0;1, 2019 and December&#xa0;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 &lt; 1&#xa0;month of age.</p> Results <p>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&#xa0;weeks gestational age and F-echo was performed at 25.4 ± 3.1&#xa0;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.</p> Conclusion <p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月31日

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  • Kacy Taylor,
  • Casey Lovelace,
  • Erin Van Pelt,
  • Oluseyi Ogunleye,
  • Karen Texter,
  • Clifford L. Cua

摘要

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.