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• W3147940111 abstract "Background VACTERL association (as defined by 3 or more anomalies in any of the following systems: vertebral, anorectal, cardiac, trachea-esophageal, renal, or limb) is present in around a third of patients with anorectal malformations (ARM). In female ARM patients’ gynecologic anomalies are seen in conjunction with 1 in 5 rectovestibular and 1 in 20 rectoperineal fistulae. This study hypothesized that the presence of VACTERL association would predict an increased risk of gynecologic anomalies and this information will help to guide evaluation and management protocols. Methods This study is a cross-sectional, retrospective analysis from the prospectively-collected, multicenter registry of the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC). Subjects with inflammatory bowel disease were not eligible for the PCPLC registry. The 316 female subjects with a perineal or vestibular fistula who were enrolled in the registry by January 14, 2020 were included in this study. The relationship of VACTERL association, ARM plus an anomaly in two or more VACTERL systems, with presence of a genital anomaly was evaluated with Fisher's exact test (Table 2). The relationship of each individual VACTERL system with presence of a genital anomaly was analogously assessed. P-values reported were based on a 2-sided alternative and considered significant when less than 0.05. Results 316 patients with rectoperineal (n=162, 51.3%) or rectovestibular (n=154, 48.7%) fistulae underwent VACTERL screening and gynecologic evaluation. 83 (26.3%) of patients with rectoperineal fistulae or rectovestibular fistulae had gynecologic anomalies. (Table 1). Among subjects with VACTERL association, 70.4% have a spine anomaly, 68.7% have a renal anomaly, and 70% have a cardiovascular anomaly. Genital anomalies were present in 40.9% vs. 17.9% of subjects with vs. without VACTERL association (p < 0.001). Genital anomalies were present in 31.0% vs. 16.5% of subjects with vs. without an anomaly in at least one VACTERL system (p = 0.006) Table 2. Conclusions Presence of VACTERL association in patients with rectoperineal or rectovestibular fistula correlates with an increased risk of gynecologic anomalies and should prompt early involvement of pediatric gynecology in their care. VACTERL association (as defined by 3 or more anomalies in any of the following systems: vertebral, anorectal, cardiac, trachea-esophageal, renal, or limb) is present in around a third of patients with anorectal malformations (ARM). In female ARM patients’ gynecologic anomalies are seen in conjunction with 1 in 5 rectovestibular and 1 in 20 rectoperineal fistulae. This study hypothesized that the presence of VACTERL association would predict an increased risk of gynecologic anomalies and this information will help to guide evaluation and management protocols. This study is a cross-sectional, retrospective analysis from the prospectively-collected, multicenter registry of the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC). Subjects with inflammatory bowel disease were not eligible for the PCPLC registry. The 316 female subjects with a perineal or vestibular fistula who were enrolled in the registry by January 14, 2020 were included in this study. The relationship of VACTERL association, ARM plus an anomaly in two or more VACTERL systems, with presence of a genital anomaly was evaluated with Fisher's exact test (Table 2). The relationship of each individual VACTERL system with presence of a genital anomaly was analogously assessed. P-values reported were based on a 2-sided alternative and considered significant when less than 0.05. 316 patients with rectoperineal (n=162, 51.3%) or rectovestibular (n=154, 48.7%) fistulae underwent VACTERL screening and gynecologic evaluation. 83 (26.3%) of patients with rectoperineal fistulae or rectovestibular fistulae had gynecologic anomalies. (Table 1). Among subjects with VACTERL association, 70.4% have a spine anomaly, 68.7% have a renal anomaly, and 70% have a cardiovascular anomaly. Genital anomalies were present in 40.9% vs. 17.9% of subjects with vs. without VACTERL association (p < 0.001). Genital anomalies were present in 31.0% vs. 16.5% of subjects with vs. without an anomaly in at least one VACTERL system (p = 0.006) Table 2. Presence of VACTERL association in patients with rectoperineal or rectovestibular fistula correlates with an increased risk of gynecologic anomalies and should prompt early involvement of pediatric gynecology in their care." @default.
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• W3147940111 title "12. Does presence of a VACTERL anomaly predict an associated Gynecologic anomalies in females with Anorectal Malformation?: A Pediatric Colorectal and Pelvic Learning Consortium Study" @default.
• W3147940111 doi "https://doi.org/10.1016/j.jpag.2021.02.016" @default.
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