Utility of Fetal Echocardiography in First-Degree Relatives with Bicuspid Aortic Valve and Normal Obstetric Ultrasound

Abstract

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

Keywords

fetal echocardiography - bicuspid aortic valve - congenital heart disease - prenatal diagnosis - cost-effectiveness

Ethical Approval

Approved by the University of Arkansas for Medical Sciences Institutional Review Board. Familial clustering of bicuspid aortic valve and its relationship with aortic dilation in first-degree relatives.

Publication History

Received: 14 October 2025

Accepted: 14 December 2025

Article published online:
31 December 2025

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