Abstract

Vascular rings are increasingly identified on fetal echocardiography. The purpose of this study is to analyze clinical outcomes and patterns of diagnostic testing in fetuses with vascular rings diagnosed by echocardiography. A retrospective cohort study was performed of fetuses with postnatally confirmed vascular rings from 2017 to 2022. Clinical outcomes included type and timing of symptoms, and timing of surgical intervention. Freedom from symptoms and/or surgery was assessed by Kaplan-Meier analysis. Frequency of genetic and diagnostic testing (barium esophagogram, CT/MRI angiogram, and bronchoscopy) was also assessed. Overall, 46 patients were evaluated (91% with a right aortic arch/left ductus and 4% with a double aortic arch). A vascular ring was isolated in 59%, associated with structural heart lesions in 33%, and associated with noncardiac anomalies in 8%. Prenatal diagnoses increased over time. Symptoms developed in 24% (11/46); 82% (9/11) had respiratory and 45% (5/11) had gastroesophageal complaints. Surgery was performed in 17% (11/46). Symptoms presented bimodally, prior to 100 or after 400days of life. There was no difference in the type of symptoms for early (< 100days) or late (> 400days) presenters. Symptomatic patients received more diagnostic testing. Genetic testing was obtained in 46% and positive in 33%, with 22q11 deletion and Trisomy 21 being identified. Prenatal diagnoses of vascular rings increased over time, with subjects developing symptoms bimodally in early or late infancy. The frequency of genetic testing was suboptimal given the prevalence of genetic abnormalities seen in this population.

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