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
Topic overview
Multi-institutional study of 1467 ARM patients reveals cardiac, vertebral/spinal, renal, and gynecologic anomalies are most common, with many diagnosed after the newborn period. Spinal cord and Mullerian tract malformations show the largest diagnostic delays, suggesting gaps in current screening protocols. Authors propose expanding VACTERL to VACTE(G)RLS to improve detection of these frequently missed conditions.
Key takeaways
- Spinal cord and gynecologic anomalies are frequently missed in newborn VACTERL screening for ARM patients, with diagnosis rates increasing significantly at later encounters.
- Among female ARM patients, 25.8% had congenital gynecologic malformations across all encounters vs only 16.1% diagnosed at birth—a critical screening gap.
- Cardiac anomalies remain most common (77.4%), followed by vertebral/spinal (45.4%), renal (39.9%), limb (15.7%), and TEF (10.2%) in ARM patients.
- Authors propose new acronym VACTE(G)RLS to emphasize spinal cord (S) and gynecologic (G) screening in ARM workup alongside traditional VACTERL components.
- Multi-institutional data shows lower Mullerian tract, spinal cord malformations, and vesicoureteral reflux had largest diagnostic delays (11-14% gap, p<0.001).
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