O2142: Frequency of VACTE(G)RLS associated anomalies in newborns with anorectal malformations across hospitals within the Pediatric Health Information Systems database: Neonatal diagnoses and beyond

Background: Spinal cord and gynecologic anomalies may be overlooked as part of the traditional VACTERL work up for patients with anorectal malformation (ARM). The objective of this study was to report contemporary rates of associated congenital diagnoses found in patients with ARM during initial newborn admission and beyond in the United States using the Pediatric Health Information Systems (PHIS) database.

Methods: A retrospective multi-institutional cohort study was performed using the PHIS database for patients born with ARM admitted to a neonatal intensive care unit (NICU) between 1/2016-12/2022 across 44 freestanding children’s hospitals. Relevant ICD10 diagnostic and procedure codes were used to identify ARM patients. Based on prior literature, we screened for ICD10 codes associated with each individual component of VACTERL (vertebral, cardiac, tracheoesophageal fistula (TEF), renal, and limb anomalies) with respective sub-category diagnoses (Table 1). Additional anomalies outside of traditional the VACTERL anomalies were evaluated, including spinal cord malformations, vesicoureteral reflex, and gynecologic malformations. We assessed the rate of diagnosis at a patient’s initial NICU admission as well as the rate of diagnosis across all subsequent hospital encounters.

Results: 1,467 patients met inclusion criteria, 496 (34%) were female. The rates of an associated VACTERL diagnoses while admitted to the NICU were 35% vertebral/spinal, 73% cardiac, 10% TEF, 35% renal, and 13% limb. The rates of associated diagnoses across all hospital encounters for each patient were all higher with 45% vertebral/spinal, 77% cardiac, 10% TEF, 40% renal, and 16% limb. Among female patients, 16% had an associated congenital gynecologic malformation diagnosis at birth which increased to 26% across all hospital encounters. Table 1 further details the rates of sub-category diagnoses. 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 NICU and all subsequent encounters.

Conclusion: The most commonly associated anomalies with ARM are cardiac, vertebral/spinal, renal, and gynecologic (in females). Most are diagnosed in the newborn period however discrepancy between diagnosis during NICU admission versus all encounters suggests there may be an opportunity to improve screening for certain diagnoses. We highlight spinal cord anomalies and gynecologic malformations with ARM patients because early consideration for evaluation can consolidate future procedures and guide counseling. We suggest changing the VACTERL acronym to VACTE(G)RLS to emphasize to providers the importance and frequency of gynecologic and spinal cord anomalies in patients with ARM.