Comparison of Maternal Histories and Exposures in Children With Isolated Anorectal Malformation Versus Anorectal Malformation With Genitourinary Anomalies

Introduction To our knowledge, there are no studies to date that have compared patients with isolated anorectal malformation (ARM) to patients with ARM and an associated genitourinary (GU) malformation despite a possible etiological difference between these two entities. We examined the differences in maternal and prenatal exposures and comorbidities between patients with isolated ARM and patients with ARM and associated GU malformations. Materials and methods A retrospective cohort study of children with ARM, enrolled in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) between February 2017 and October 2019, was performed comparing those with isolated ARM to those with ARM and associated GU anomalies (GU +/- additional anomalies) as well as to those with ARM and a GU anomaly with no anomaly of any other system (GU-only). We compared the prevalence of prematurity, family history of colorectal disorders, as well as maternal and prenatal comorbidities and exposures between these two cohorts and the isolated ARM cohort. Results A total of 505 patients (117 with isolated ARM and 388 with ARM and associated GU anomalies) were enrolled. Of the 388 patients with ARM and associated GU anomalies, 48 had an ARM with a GU anomaly without an anomaly in any other system. There was an increased prevalence of premature births in the GU +/- additional anomalies cohort compared to the isolated ARM cohort (27 vs 14%, p=0.003). This difference was not seen in the GU-only cohort. There was no difference between the cohorts regarding prevalence of family history of ARM or maternal and prenatal comorbidities or exposures. Conclusions Patients with an ARM and an associated GU anomaly with or without other congenital anomalies are more likely to be born prematurely compared to patients with an isolated ARM. Parents of these children should be counseled on this increased risk.