VACTERL Screening in Newborns w/ Anorectal Malformations, A New Acronym: VACTE(G)RLS | 2016-2022 | Retrospective multi-institutional cohort study | 1467 patients | 34% female | Pediatric Health Information Systems database | Most commonly associated anomalies: Cardiac, vertebral/spinal, renal, and gynecologic | Congenital gynecologic malformations in female patients | 16.1% diagnosed at birth | 25.8% across all hospital encounters | Discrepancy between newborn diagnosis vs diagnosis across all hospital encounters | Lower Mullerian tract malformations (+11%) | Spinal cord malformations (+12%) | Vesicoureteral reflux (+14%) | Vertebral Anal Cardiac Tracheoesophageal (G)ynecologic Renal Limb Spinal | Conclusion: Spinal cord and gynecologic anomalies may be missed during VACTERL screening for patients with anorectal malformations. The VACTERL acronym should be expanded to VACTE(G)RLS. | https://pubmed.ncbi.nlm.nih.gov/40032536/ | Xu TO et al. | Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA | Journal of Pediatric Surgery | @LizzyPAC8 | @globalcastmd | @GrayCastroMD
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
Infographic · Jul 2025 · 1 min read
In brief
In brief
Multi-institutional study of 1,467 ARM patients reveals that spinal cord and gynecologic anomalies are frequently underdiagnosed at birth, with detection rates increasing significantly across subsequent encounters. Authors propose expanding VACTERL to VACTE(G)RLS to improve screening protocols and capture these commonly associated conditions.
- 77% of ARM patients have cardiac anomalies—highest association rate, making echocardiography essential in newborn screening protocols.
- 25% of female ARM patients have gynecologic malformations; many missed at birth, requiring dedicated pelvic imaging in newborn workup.
- Spinal cord malformations increase from 35% at birth to 45% later—MRI spine should be standard, not deferred, in ARM evaluation.
- Proposed VACTE(G)RLS acronym adds Gynecologic and Spinal cord emphasis to traditional VACTERL screening for comprehensive care.
- Vesicoureteral reflux diagnosed 14% more often after discharge—consider voiding cystourethrogram as part of initial renal assessment.
Written by the GCMD Library team from the infographic.
The infographic uses a teal header, yellow highlight bars, and anatomical illustrations at the bottom showing vertebrae, heart, trachea/esophagus, uterus, kidney, and limb/spine. Data is presented in text blocks with bullet points, percentages, and a concluding statement. Color-coded sections separate study design, findings, and conclusions.
Thomas O Xu, Rachel E Hanke, Kirsten Das, Melanie Bowser, Butool Hisam, Inbal Samuk, Hussein Wissanji, Erin Teeple, Allison Mayhew, John S Myseros, Andrea Badillo, Marc A Levitt, Briony K Varda, Christina Feng
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.