Aim of the Study
Prompt diagnosis of anorectal malformation (ARM) is essential to manage the condition optimally, alleviate parental anxiety, and facilitate detection of associated abnormalities. Co-existent anomalies are common but their incidence has never been described at a national population level. This study aimed to characterise the associated anomalies in a national population cohort and document the timing of diagnosis.
With ethical approval (ref:12/SC/0416), between 01/10/2015 and 30/09/2016, children with a new diagnosis of ARM were prospectively reported from all paediatric surgical centres in the UK and Ireland using established BAPS-CASS methodology. Data concerning population characteristics and timing of presentation were collected using a standardised form.
Data were received for 156 individuals with ARM during the study period. Eighty-seven (56%) were male. In 52/156 (33%), ARM appeared to be an isolated anomaly, noting that not all underwent investigations to exclude additional anomalies. Associated anomalies detected were: non-PDA cardiac in 72/123(59%), renal-tract in 48/140(34%), limb in 17/156(11%) and other gastrointestinal/hepatobiliary in 29/156(19%). Fifty-five (35%) had ≥3 VACTERL abnormalities. Twelve infants (8%) had identified genetic conditions.
In four infants the diagnosis was suspected antenatally. Postnatal diagnosis of ARM was made more than 24hours after birth in fifty-five individuals (35%) and twenty-nine (19%) were discharged before the abnormality was detected.
Associated anomalies are common in children born with anorectal malformation and some, particularly cardiac, appear more common than previously reported.
Despite the introduction of NICE guidelines for the neonatal check in 2006; almost one-in-five infants with ARM were discharged before the diagnosis was made. This has the potential to impact on both patient safety and surgical management choice. Reasons for this need to be urgently identified and indicate a potential need for targeted training of staff involved in newborn examination.