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Birth prevalence of anorectal malformations in England and 5-year survival: a national birth cohort study
Kathryn Ford1,2, Maria Peppa2, Ania Zylbersztejn2
1Department of Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK kathryneford@gmail.com.
Insights
Anorectal malformations affect 3.5 per 10,000 births. Complex cases are linked to maternal age extremes, with lower survival rates, especially in preterm infants.
Area of Science:
- Pediatric Surgery
- Congenital Anomalies
- Epidemiology
Background:
- Anorectal malformations (ARMs) are congenital anomalies with varying prevalence and outcomes.
- Understanding risk factors and survival rates is crucial for clinical management and public health.
- Previous studies have often focused on specific subtypes or limited geographic regions.
Purpose of the Study:
- To determine the birth prevalence of isolated and complex anorectal malformations.
- To identify maternal risk factors associated with these conditions.
- To assess the 5-year survival rates for infants with anorectal malformations.
Main Methods:
- A national birth cohort study was conducted using hospital admission data and death records in England.
- Live-born singletons diagnosed with anorectal malformations between 2002 and 2018 were included.
- Cases were classified as isolated or complex based on the presence of additional anomalies.
Main Results:
- A total of 3325 infants with anorectal malformations were identified, with a birth prevalence of 3.5 per 10,000 live births.
- Complex anorectal malformations were more common (61.7%) and associated with maternal age extremes (≥35 or ≤24 years).
- Five-year survival was 98.2% for isolated ARMs and 86.9% for complex ARMs, with preterm infants with complex ARMs having the lowest survival (73.4%).
Conclusions:
- Maternal age extremes are significant risk factors for complex anorectal malformations, suggesting different underlying etiologies.
- While overall 5-year survival for anorectal malformations is high, complex cases, particularly in preterm infants, face poorer prognoses.
- These findings highlight the need for targeted interventions and further research into the mechanisms of anorectal malformations.
Objective:
To determine the birth prevalence, maternal risk factors and 5-year survival for isolated and complex anorectal malformations.
Design:
National birth cohort using hospital admission data and death records.
Setting:
All National Health Service England hospitals.
Patients:
Live-born singletons delivered from 2002 through 2018, with evidence in the first year of life of a diagnosis of an anorectal malformation and repair during a hospital admission, or anorectal malformation recorded on the death certificate. Cases were further classified as isolated or complex depending on the presence of additional anomalies.
Main Outcome Measures:
Birth prevalence of anorectal malformations per 10 000 live births, risk ratios for isolated and complex anorectal malformation by maternal, infant and birth characteristics, and 5-year survival.
Results:
We identified 3325 infants with anorectal malformations among 9 474 147 live-born singletons; 61.7% (n=2050) of cases were complex. Birth prevalence was 3.5 per 10 000 live births (95% CI 3.4 to 3.6). Complex anorectal malformations were associated with maternal age extremes after accounting for other sociodemographic factors. Compared with maternal ages 25-34 years, the risk of complex anorectal malformations was 31% higher for ≥35 years (95% CI 17 to 48) and 13% higher for ≤24 years (95% CI 0 to 27). Among 2376 anorectal malformation cases (n=1450 complex) born from 2002 through 2014, 5-year survival was lower for complex (86.9%; 95% CI 85.1% to 88.5%) than isolated anorectal malformations (98.2%; 95% CI 97.1% to 98.9%). Preterm infants with complex anorectal malformations had the lowest survival (73.4%; 95% CI 68.1% to 78.0%).
Conclusions:
Differences in maternal risk factors for isolated and complex anorectal malformations may reflect different underlying mechanisms for occurrence. Five-year survival is high but lowest for preterm children with complex anorectal malformations.
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