Late diagnosis of anorectal malformation: how good is good enough?
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Read the article on link.springer.com ↗Article · Jul 2024 · 1 min read
In brief
In brief
This UK single-center study examines delayed diagnosis of anorectal malformations, finding 15% diagnosed after 72 hours despite newborn screening protocols. Infants with visible perineal openings were more likely to present late with obstructive symptoms, highlighting ongoing challenges in early detection.
- 15% of anorectal malformations were diagnosed after 72 hours, showing modest improvement from prior 22% national rate but still significant.
- Infants with visible perineal meconium are 6× more likely to have delayed diagnosis (25% vs 4%), often missed on newborn examination.
- Late-diagnosed patients present with obstructive symptoms (distension, vomiting) 22× more often, requiring emergency intervention.
- Perineal examination within 72 hours per UK guidelines remains inadequately performed, particularly for subtle ARM variants.
- Delayed ARM diagnosis increases complication risk and alters clinical management compared to timely detection.
Written by the GCMD Library team from the article.
Abstract
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.