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Utility of Fetal Echocardiography in First-Degree Relatives with Bicuspid Aortic Valve and Normal Obstetric
Alaa Ismail1, Jena Schmidt2, Elijah Bolin2
1Division of Cardiology, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Arkansas, United States.
Insights
Fetal echocardiography (f-Echo) did not detect significant congenital heart disease (CHD) in pregnancies with a family history of bicuspid aortic valve (BAV). Postnatal echocardiography confirmed no significant CHD, suggesting limited value of routine f-Echo in this population.
Area of Science:
- Cardiology
- Prenatal Diagnosis
- Medical Imaging
Background:
- Bicuspid aortic valve (BAV) is a common congenital heart defect.
- Family history of BAV is an indication for fetal echocardiography (f-Echo).
- The diagnostic yield of f-Echo in this specific high-risk group is not well-established.
Purpose of the Study:
- To evaluate the diagnostic yield of f-Echo in detecting significant congenital heart disease (CHD).
- To assess f-Echo's value in pregnancies with a first-degree relative with BAV and normal Level II ultrasound.
- To determine if routine f-Echo is beneficial for this specific indication.
Main Methods:
- Retrospective review of 65 f-Echos performed for family history of BAV (2019-2023).
- Exclusion of cases with additional indications or non-first-degree relatives.
- Review of postnatal transthoracic echocardiography (t-Echo) data when available; significant CHD defined as requiring intervention in the first year of life.
Main Results:
- No significant CHD was detected prenatally via f-Echo.
- Postnatal t-Echo in 41 cases also revealed no significant CHD.
- Two infants (5%) were diagnosed with BAV postnatally, neither requiring intervention; minor findings included pulmonary valve stenosis and atrial septal defect.
Conclusions:
- Fetal echocardiography (f-Echo) demonstrated no added diagnostic value for significant CHD in pregnancies with a family history of BAV and normal obstetric ultrasound.
- Postnatal echocardiography remains the definitive diagnostic tool.
- The findings suggest routine f-Echo for this indication may offer limited value and warrants reconsideration of current screening guidelines due to cost implications.
Objective:
This study aimed to evaluate the diagnostic yield of fetal echocardiography (f-Echo) in detecting significant congenital heart disease (CHD) in pregnancies with a first-degree relative with a history of bicuspid aortic valve (BAV) and a normal level II obstetric ultrasound.
Study Design:
A retrospective review was conducted of all f-Echos performed between 2019 and 2023 for the sole indication of family history of BAV. Cases with additional indications or affected nonfirst-degree relative were excluded. Postnatal transthoracic echocardiography (t-Echo) data were reviewed when available. Significant CHD was defined as requiring catheter or surgical intervention in the first year of life.
Results:
Sixty-five f-Echos were included (mean gestational age: 26.6 ± 3.7 weeks). No significant CHD was identified prenatally. Postnatal t-Echo was performed in 41 (63%) cases, with no significant CHD detected. Two (5%) infants were diagnosed postnatally with BAV, neither requiring intervention during the study interval. Minor findings included one case each of pulmonary valve stenosis and atrial septal defect.
Conclusion:
In pregnancies with a first-degree relative with BAV and a normal obstetric ultrasound, f-Echo showed no added diagnostic value for detecting significant CHD. Based on the state's birth rate (approximately 35,000/year), BAV prevalence (1-2%), and an average family size of 3.08, an estimated 733 to 1,466 pregnancies annually in Arkansas could qualify for f-Echo under current guidelines. At a cost of $1,000 to 5,000 per study, this translates to an annual healthcare expenditure ranging from $733,000 to 7.33 million. These findings support more targeted screening and the need for multicenter studies.
Key Points:
· No significant CHD detected with f-Echo.. · Postnatal t-Echo remains definitive.. · Routine f-Echo may add limited value.. · Cost implications warrant reconsideration.
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