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

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. 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. 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. 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.