Midwest Pediatric Surgery Consortium
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Anorectal Malformations (ARM) occur in up to 1 in 4000 live births and encompass a spectrum ranging from anal stenosis to imperforate anus to cloacal exstrophy. They are often associated with other congenital anomalies, such as the VACTERL cluster, which are important determinants of prognosis and should be evaluated in all patients. Minneci et al. used the MWPSC group to study the frequency of various ARM defects and associated anomalies in 506 patients. They found that ARM with perineal fistula was the most common phenotype comprising 41% of patients. 96% of ARM patients had at least one screening test for associated anomalies and 11% underwent screening for all VACTERL associated anomalies. The most common associated anomaly was cardiac with PFO, PDA, and ASD being found in 58%, 44%, and 21% of patients respectively. Other organ systems were less common but still frequently involved and included hydronephrosis (23%), tethered spinal cord (21%), and sacral dysplasia (18%). This provided important information supporting the screening for associated anomalies in ARM patients.
Long-term patient and family satisfaction around ARM procedures is heavily weighted towards fecal continence. Families are counseled that ARMs are lifetime conditions, and that bowel management is a component, but specifics are difficult. The MWPSC sought to study whether fecal continence can be predicted in these patients. In 2019, Minneci et al. studied 144 patients from the consortium centers and used multivariable logistic regression to look for factors associated with continence. Only 40% of patients studied were classified as continent. Factors associated with continence were the type and severity of ARM. Patients with ARM with perineal fistula were the most likely to have fecal continence (60%).
Sacral Ratios as a measure of sacral development have been used to help predict disease severity and continence in previous studies, however, the interpretation of images is subjective. The MWPSC looked at inter-rater reliability (IRR) of sacral ratio to help improve accuracy as a predictive test. In 2020, Metzger et al. looked at sacral imaging from 263 patients from consortium centers. They found that the reliability and predictive value were higher for the AP views compared to lateral (IRR 82% vs. 44%). This study has been important for standardizing imaging interpretations and providing information to better counsel families on results.
Minneci PC, Kabre RS, Mak GZ, Halleran DR, Cooper JN, Afrazi A, et al. Screening practices and associated anomalies in infants with anorectal malformations: Results from the Midwest Pediatric Surgery Consortium. Journal of Pediatric Surgery 2018;53:1163–7. https://doi.org/10.1016/j.jpedsurg.2018.02.079.
Minneci PC, Kabre RS, Mak GZ, Halleran DR, Cooper JN, Afrazi A, et al. Can fecal continence be predicted in patients born with anorectal malformations? Journal of Pediatric Surgery 2019;54:1159–63. https://doi.org/10.1016/j.jpedsurg.2019.02.035.
Metzger G, Cooper JN, Kabre RS, Mak GZ, Halleran DR, Boyd K, et al. Inter-rater Reliability of Sacral Ratio Measurements in Patients with Anorectal Malformations. Journal of Surgical Research 2020;256:272–81. https://doi.org/10.1016/j.jss.2020.06.040.