Underdiagnosis of Mild Congenital Anorectal Malformations

Jonker, Jara E.; Trzpis, Monika; Broens, Paul M. A.

doi:10.1016/j.jpeds.2017.03.054

Cited by 14 publications

(12 citation statements)

References 11 publications

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“…34 This has been also demonstrated by Jonker et al, who showed that the diagnosis was made at a later stage in mild forms of ARM such as a rectoperineal or vestibular fistula, and sometimes ARM remained completely unrecognized, as the only symptom was a chronic constipation. 35 Sharma et al, also observed a high incident of delayed diagnosis, especially among girls in developing countries (37). Our results confirm these findings, and we strongly support the implementation of an interdisciplinary approach with pediatric surgery consultation as a part of the initial examination in cases of unclear anogenital findings to improve outcome.…”

Section: Time Of Diagnosis and Clinical Findingssupporting

confidence: 88%

Risk factors for anorectal and associated malformations in German children: A 10-year analysis

Kapapa

Becker

Serra

2021

Pediatrics & Neonatology

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Background: Incidences of anorectal malformations (ARM) occur in 1 of 2000e5000 live births and up to 64% have associated malformations (ARMa). The aim of the study was to evaluate possible prenatal risk factors for ARM in a tertiary hospital. Methods: A caseecontrol design was used to compare risk factors in ARM (n Z 44) to a control group (CG; n Z 26). We used modified prenatal questionnaires, analyzed mothers' prenatal records and participants completed a structured interview. Endpoints were medical history, drug consumption, occupational risk factors, and time point of diagnosis, associated malformations and sensitivity of radiological imaging. Results: Our results showed that ARM couples had a significantly higher age difference (p Z 0.028) compared to CG. ARM mothers had more abnormalities during pregnancy (p Z 0.002), more positive vaginal smears of group B streptococci (p Z 0.024), urogenital infections (p Z 0.005), gestosis (p Z 0.03), emesis (p Z 0.025) and higher numbers of chronic diseases (p Z 0.018). ARM mothers took less medication during pregnancy (p Z 0.013) than CG mothers including folic acid (p Z 0.041); their intake of iodine tablets was significantly higher (p Z 0.035) and they continued smoking for longer (p Z 0.036) than CG mothers, and they had more stillbirths (p Z 0.035). In using illegal drug and alcohol use, the groups did not show significant differences. ARMa was present in 68.1% (n Z 30), of which 45.5% were of urogenital origin (n Z 20). ARM diagnosis was made on the first day of life in 72.7% (n Z 32), while diagnosis was delayed in 12 patients (27.3%). Conclusion: A combination of different risk factors seem to be associated with the development of ARM, which takes place at an early stage (<7th week) of pregnancy. Therefore, risk factors influencing fetal development must be critically considered. We advocate an

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Section: Time Of Diagnosis and Clinical Findingssupporting

confidence: 88%

Risk factors for anorectal and associated malformations in German children: A 10-year analysis

Kapapa

Becker

Serra

2021

Pediatrics & Neonatology

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“…In our study, females had a higher odds ratio of having anorectal malformation in contrast to many studies that indicate male predominance; however, many similar studies have pointed to an equal distribution [ 5 , 13 ]. Males are reported to have been affected more when the severity of anorectal malformation is taken into consideration [ 14 ]. No significant difference in mortality was found in gender for anorectal malformation, which is consistent with a similar study conducted in Kenya [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

Epidemiological Comparison of Anorectal Malformation With Other Gastrointestinal Abnormalities in Patients in the Pediatric Ward

Saeed¹,

Khalid²,

Farhan³

et al. 2022

Cureus

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BackgroundAnorectal malformations are congenital defects wherein there is defective development of the anus and rectum. For babies born with congenital anorectal malformations, prompt treatment is crucial which requires detection of the anomalies at the earliest. This study aimed to determine the epidemiology of anorectal malformations in the Pediatric Unit of a tertiary care hospital in Pakistan over a period of 19 months. MethodologyAn analytical cross-sectional study was conducted retrospectively from January 2020 to September 2021 using a non-randomized consecutive sampling technique. Patients aged less than eight years were included, whereas burnt, torn, and incomplete records from the Hospital Management Information System (HMIS) were excluded. SPSS version 26 (IBM Corp., Armonk, NY, USA) was used for data entry and analysis. Binomial and multinomial logistic regression were applied for analyzing the association between explanatory and dependent variables. ResultsOf the 1,108 patients, 72 (6.5%) patients had anorectal malformations. Gastrointestinal diseases made up about 64.3% of all diseases. Among gastrointestinal causes, the prevalence of anorectal malformation was up to 10.1%. The mortality of anorectal malformation patients was low (2.85%) compared to mortalities due to other gastrointestinal abnormalities (8.25%). Anorectal malformation had significantly lower odds of mortality (adjusted odds ratio = 0.19, p < 0.05) compared to other gastrointestinal abnormalities. ConclusionsThis study has provided data about the prevalence of anorectal malformation and its mortality which were calculated as 6.5% and 2.58%, respectively. Female gender, neonates, and delayed presentation were seen to have higher mortality, highlighting the need to screen all neonates pre-and post-natally to avoid any misdiagnosis.

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“…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.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2022

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In the past, an anteriorly located anus was often misdiagnosed and treated as an anorectal malformation (ARM) with a perineal fistula (PF). The paper aims to define the criteria for a normal anus, an anterior anus (AA) as an anatomic variant, and milder types of ARM such as congenital anal stenosis (CAS) and PF. An extensive literature search was performed by a working group of the ARM-Net Consortium concerning the subject “Normal Anus, AA, and mild ARM”. A consensus on definitions, clinical characteristics, diagnostic management, and treatment modalities was established, and a diagnostic algorithm was proposed. The algorithm enables pediatricians, midwives, gynecologists, and surgeons to make a timely correct diagnosis of any abnormally looking anus and initiate further management if needed. Thus, the routine physical inspection of a newborn should include the inspection of the anus and define its position, relation to the external sphincter, and caliber. A correct diagnosis and use of the presented terminology will avoid misclassifications and allow the initiation of correct management. This will provide a reliable comparison of different therapeutic management and outcomes of these patient cohorts in the future.

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Underdiagnosis of Mild Congenital Anorectal Malformations

Cited by 14 publications

References 11 publications

Risk factors for anorectal and associated malformations in German children: A 10-year analysis

Risk factors for anorectal and associated malformations in German children: A 10-year analysis

Epidemiological Comparison of Anorectal Malformation With Other Gastrointestinal Abnormalities in Patients in the Pediatric Ward

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

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