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Prevalence and mortality among children with anorectal malformation: A multi-country analysis
Vijaya Kancherla1, Manasvi Sundar1, Lucita Tandaki2
1Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA.
Insights
Anorectal malformation (ARM) is rare, affecting 3.26 per 10,000 births. While prevalence of complex ARM cases decreased, early mortality remains a concern, particularly for syndromic and multiple birth defect cases.
Area of Science:
- Epidemiology
- Public Health
- Medical Genetics
Background:
- Anorectal malformation (ARM) is a congenital condition with significant health implications.
- Understanding ARM prevalence and mortality is crucial for public health planning and clinical service provision.
Purpose of the Study:
- To examine the total prevalence, prevalence trends, and age-specific mortality of individuals with anorectal malformation (ARM).
- To provide descriptive epidemiological data on ARM, including geographic variations, to inform clinical services and future research.
Main Methods:
- A retrospective cohort study was conducted using data from 24 international birth defects surveillance programs (1974-2014).
- Prevalence was estimated per 10,000 total births, and time trends were assessed using Poisson regression (2001-2012).
- Age-specific mortality proportions were calculated, stratified by case status (isolated, multiple, syndromic).
Main Results:
- The pooled total prevalence of ARM was 3.26 per 10,000 births (1974-2014).
- Approximately 60% of ARM cases were multiple or syndromic.
- Prevalence of multiple, syndromic, and stillborn ARM cases decreased from 2001 to 2012.
- First-week mortality proportions were 12.5% (all cases), 3.2% (isolated), 28.3% (multiple), and 18.2% (syndromic).
Conclusions:
- Anorectal malformation is a rare condition, with decreasing prevalence observed in multiple and syndromic cases.
- Early mortality, especially within the first week of life, is a significant concern for multiple and syndromic ARM cases.
- These epidemiological findings enhance understanding of ARM's geographic variation and can guide the planning of clinical services.
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 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program-specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age-specific proportions of deaths, stratified by case status RESULTS: 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% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively CONCLUSIONS: ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.
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