VACTERL association in screened patients with esophageal atresia: A retrospective cohort study

Comprehensive VACTERL screening is crucial in children with esophageal atresia (EA), as undetected anomalies can delay diagnosis and treatments for these problems. Screening practices vary widely in the literature, however. This study aimed to assess the proportion of EA patients receiving comprehensive VACTERL screening, examine screening changes over time and determine the prevalence of additional anomalies, VACTERL association and genetic diagnoses.

A retrospective cohort study was conducted at a single center, including all neonates born with EA between 2000 and 2024. Comprehensive VACTERL screening included vertebral x-ray, cardiac and renal ultrasound, and physical examination for limb deformities and anorectal malformation. VACTERL classification was based on EUROCAT definitions.

A total of 240 patients were included. Comprehensive VACTERL screening was conducted in 180 (75%) patients, improving to 100% in the past four years (i.e. 2020-2024). In screened patients, vertebral (32%) and cardiac (28%) anomalies were most commonly identified. VACTERL association was present in 28% of comprehensive screened EA patients: 14% VACTERL-LIKE, 11% STRICT-VACTERL and 3% VACTERL-PLUS. A genetic association was identified in 13% of patients, most commonly trisomy 21.

While 75% of EA patients underwent comprehensive VACTERL screening, a fourth of the patients were not fully assessed, potentially leading to unrecognized anomalies with possible clinical implications. Over the last four years 100% screening rate has successfully been attained. VACTERL association was identified in 28% of patients and a genetic diagnosis was established in 13%. These findings emphasize the importance to pursue systematic and comprehensive VACTERL screening for patients with EA to detect these anomalies.