Variations in the Detection of Anorectal Anomalies at Birth among European Cities

Abstract

Introduction The diagnosis of anorectal malformations (ARMs) is made at birth by perineal examination of the newborn, yet small series reported late diagnosis in almost 13%. No large series to date have looked into the magnitude of missed ARM cases in the neonatal period across Europe. This study aimed to define the rate of missed ARM at birth across four United Kingdom and European Union centers. Materials and Methods All ARM cases treated at two United Kingdom tertiary centers in the past 15 years were compared with two tertiary European centers. Demographic and relevant clinical data were collected. Late diagnosis was defined as any diagnosis made after discharge from the birth unit. Factors associated with late diagnosis were explored with descriptive statistics. Results Across the four centers, 117/1,350, 8.7% were sent home from the birth unit without recognizing the anorectal anomaly. Missed cases showed a slight female predominance (1.3:1), and the majority (113/117, 96.5%) were of the low anomaly with a fistula to the perineum. The rate of missed ARM cases was significantly higher in the United Kingdom centers combined (74/415, 17.8%) compared with those in the European Union (43/935, 4.6%) (p < 0.00001), and this was independent of individual center and year of birth. Conclusion Significant variation exists between the United Kingdom and other European countries in the detection of ARM at birth. We recommend raising the awareness of accurate perineal examination at the time of newborn physical examination. We feel this highlights an urgent need for a national initiative to assess and address the timely diagnosis of ARM in the United Kingdom.

Prevalence and mortality among children with anorectal malformation: A multi‐country analysis

“…It is suggested that low anomaly forms with a fistula to the perineum of ARM cases are often undiagnosed (Aldeiri et al, 2019; Amerstorfer et al, 2022; Jonker, Trzpis, & PMA, 2017). Our study may have also missed this special cases of ARM that were diagnosed after the surveillance follow‐up ended, especially in programs that could not track birth defects among babies after they were discharged from the maternity hospital.…”

Birth prevalence of anorectal malformations in England and 5-year survival: a national birth cohort study

“…Linkage of the maternal and infant birth records to subsequent hospital admissions for the infant allowed us to report detailed maternal, infant and birth characteristics, while linkage to death registrations allowed for the ascertainment of infants that died outside of a hospital setting or prior to transfer to a paediatric surgical centre. Finally, we maximised ascertainment of anorectal malformations by searching for evidence of the condition in the first year of life after a previous study reported that 18% of cases were undetected at birth but underwent surgical repair in early infancy 22…”

Clinical Differentiation between a Normal Anus, Anterior Anus, Congenital Anal Stenosis, and Perineal Fistula: Definitions and Consequences—The ARM-Net Consortium Consensus

“…It is known that mild forms of ARM may be diagnosed late or even remain undetected [ 1 , 12 , 13 ]. This is true especially in countries with lower socio-economic facilities [ 14 , 15 ], but even in renowned European centers, between 8.7% and 46% of newborns with ARM are discharged from the birth unit without the correct diagnosis [ 3 , 16 , 17 , 18 ]. The rarity of ARMs creates challenges in timely clinical diagnosis.…”

“…The rarity of ARMs creates challenges in timely clinical diagnosis. Enhancing clinicians’ awareness and providing clinical tools to differentiate ARM from non-pathological variants would decrease morbidity and potential mortality [ 10 , 16 , 18 , 19 ].…”

“…Clear criteria are required to determine whether the appearance is still within the normal spectrum, or if a specific ARM is present [ 1 , 2 , 3 , 9 , 10 , 11 , 16 , 18 , 19 , 20 , 21 , 22 ].…”