Prevalence and mortality among children with anorectal malformation: A multi-country analysis

Purpose: We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM)Methods: We conducted a retrospective cohort study using data from 24 popu-lation- and hospital-based birth defects surveillance programs affiliated withthe International Clearinghouse for Birth Defects Surveillance and Research(ICBDSR) from 18 countries and for births from 1974 to 2014. We estimatedpooled and program-specific total prevalence per 10,000 total births. Poissonregression was used to assess time trends in prevalence from 2001 to 2012when most programs contributed data. We calculated selected age-specific pro-portions of deaths, stratified by case statusResults: The pooled total prevalence of ARM was 3.26 per 10,000 total births(95% Confidence Interval = 3.19, 3.32) for birth years 1974-2014. About 60% ofcases were multiple or syndromic. Prevalence of multiple, syndromic, and still-born cases decreased from 2001 to 2012. The first week mortality proportionwas 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndro-mic cases, respectivelyConclusions: ARM is relatively rare, with multiple and syndromic casesshowing decreasing prevalence during the study period. Mortality is a concernduring the first week of life, and especially among multiple and syndromiccases. Our descriptive epidemiological findings increase our understanding ofgeographic variation in the prevalence of ARM and can be used to plan neededclinical services. Exploring factors influencing prevalence and mortality amongindividuals with ARM could inform future studies.