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Updated: Jun 22, 2025
Vessel-sparing Excision and Primary Anastomosis
Published on: January 7, 2019
Late diagnosis of anorectal malformation: how good is good enough?
Joseph Davidson1,2, Indre Zaparackaite1, Charlotte Holbrook1
1Department of Paediatric Surgery, Evelina London Children's Hospital, London, SE1 7EH, UK.
Insights
Delayed diagnosis of anorectal malformation (ARM) affects 15% of infants, particularly those with visible perineal openings. Early detection is crucial to prevent complications from emergency presentations in symptomatic babies.
Area of Science:
- Pediatric Surgery
- Neonatal Care
- Congenital Anomalies
Background:
- Anorectal malformation (ARM) diagnosis delays are a concern, with UK data showing nearly 25% of cases diagnosed late.
- The UK's Newborn Infant Physical Examination guidelines mandate a perineal examination within 72 hours of birth.
Purpose of the Study:
- To analyze the incidence and characteristics of late-diagnosed anorectal malformation (ARM) at a single tertiary center over five years.
Main Methods:
- Prospective registry analysis of ARM patients from July 2018 to March 2024.
- Definition of delayed diagnosis: presentation >72 hours after birth or after hospital discharge.
- Identification of factors associated with delayed diagnosis.
Main Results:
- Fifteen percent (9/60) of infants were diagnosed with ARM after 72 hours, a non-significant improvement from previous national data (22%).
- Late-diagnosed patients more frequently presented with obstruction symptoms (44% vs. 2%) and had anomalies with perineal meconium (25% vs. 4%).
- Complications and management changes for late-diagnosed cases were documented.
Conclusions:
- While regional late diagnosis rates for ARM appear lower than national figures, a significant number of infants, especially those with visible perineal openings, are still diagnosed late.
- Late diagnosis in symptomatic infants increases risks associated with emergency presentations.
Purpose:
National data from the United Kingdom reported in 2016 have suggested that almost one quarter of babies with anorectal malformation (ARM) have a delay in diagnosis. The UK's Newborn Infant Physical Examination dictates a perineal examination should be performed within 72 h of birth. We sought to describe a tertiary single-centre experience of late presentation in the most recent 5 years.
Methods:
A single-centre prospective registry of ARM patients (July 2018-March 2024) was analysed. Timing of presentation with anomaly was noted. Patients presenting > 72 h or having been discharged home were defined as a delayed diagnosis. Factors associated with delayed diagnosis were noted.
Results:
Sixty patients were included, of whom nine (15%) were diagnosed after 72 h [range 4-279 days]. This represents a non-significant improvement compared to 39/174 (22%) late diagnosed cases in the BAPS-CASS cohort from 2016 to 17 (p = 0.188). Presenting symptoms of obstruction (i.e. distension, vomiting, megarectum) were more common in late diagnosed patients (4/9 (44%) vs. 1/51(2%); p = 0.001). Anomalies producing meconium on the perineum were more likely to be diagnosed late (8/32 (25%) vs 1/28 (4%); p = 0.029). Complications and changes to clinical management for these cases are presented.
Conclusion:
Although our regional rates of late diagnosis appear to be lower than previously reported national rates, there remains a significant number of infants who are diagnosed late especially those with visible perineal openings. These infants are more commonly symptomatic; entraining additional risks associated with an emergency presentation.
