VACTERL Screening in Newborns With Anorectal Malformations - An Opportunity to Optimize Screening Practices, add Gynecologic and Spinal Conditions, and Utilize a New Acronym: VACTE(G)RLS.
Publication/Presentation Date
6-1-2025
Abstract
INTRODUCTION: Spinal cord and gynecologic anomalies may be overlooked as part of the traditional VACTERL screening for patients with anorectal malformations (ARM). We investigated the rates of associated anomalies in patients with ARM using the Pediatric Health Information Systems (PHIS) database.
METHODS: A retrospective multi-institutional cohort study was performed between 1/2016-12/2022. ARM patients were identified using ICD10 diagnosis and procedure codes. We assessed the rate of associated anomaly diagnosis at a patient's initial newborn admission and across all hospital encounters using ICD10 diagnosis codes.
RESULTS: 1467 patients (34 % female) were observed across 46 hospitals. The rates of VACTERL diagnoses on initial admission were 35.0 % vertebral/spinal, 72.9 % cardiac, 9.5 % TEF, 34.7 % renal, and 13.3 % limb. Diagnosis rates were all higher across all hospital encounters: 45.4 % vertebral/spinal, 77.4 % cardiac, 10.2 % TEF, 39.9 % renal, and 15.7 % limb. Among female patients, 16.1 % had a congenital gynecologic malformation diagnosed at birth and 25.8 % across all hospital encounters. Among sub-category diagnoses, the rates of lower Mullerian tract malformations (+11 %), spinal cord malformations (+12 %), and vesicoureteral reflux (+14 %) had the greatest discrepancy between newborn diagnosis and diagnosis across all hospital encounters on a one-tailed comparison of proportions (all p < 0.001) CONCLUSION: The most commonly associated anomalies in ARM are cardiac, vertebral/spinal, renal, and gynecologic (in females). Many are diagnosed as newborns however some are diagnosed later, suggesting an opportunity to improve screening, especially with spinal cord and gynecologic malformations. We suggest changing the VACTERL acronym to VACTE(G)RLS to emphasize the importance and frequency of these malformations in patients with ARM.
LEVEL OF EVIDENCE: Observational study, III.
STUDY TYPE: Multi-institutional retrospective cohort IRB APPROVAL: STUDY00000902.
Volume
60
Issue
6
First Page
162252
Last Page
162252
ISSN
1531-5037
Published In/Presented At
Xu, T. O., Hanke, R. E., Das, K., Bowser, M., Hisam, B., Samuk, I., Wissanji, H., Teeple, E., Mayhew, A., Myseros, J. S., Badillo, A., Levitt, M. A., Varda, B. K., & Feng, C. (2025). VACTERL Screening in Newborns With Anorectal Malformations - An Opportunity to Optimize Screening Practices, add Gynecologic and Spinal Conditions, and Utilize a New Acronym: VACTE(G)RLS. Journal of pediatric surgery, 60(6), 162252. https://doi.org/10.1016/j.jpedsurg.2025.162252
Disciplines
Medicine and Health Sciences
PubMedID
40032536
Department(s)
Department of Surgery
Document Type
Article