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The Importance of Screening for Additional Anomalies in Patients with Anorectal Malformations: A Retrospective Cohort
Cunera M C de Beaufort1, Alex C M van den Akker2, Caroline F Kuijper3
1Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology and Metabolism Research Institute, Amsterdam, the Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands.
Insights
Routine screening for VACTERL-association in children with anorectal malformations (ARM) is crucial. While screening improved over time, a quarter of patients were not fully assessed, risking missed diagnoses of additional anomalies.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Neonatology
Background:
- Anorectal malformations (ARM) in children are often associated with other congenital anomalies, including those within the VACTERL-association.
- Early identification and treatment of these associated anomalies are critical for patient outcomes.
- Current screening protocols lack uniformity, and data from large patient cohorts are limited.
Purpose of the Study:
- To assess and describe a large cohort of patients diagnosed with ARM who underwent VACTERL screening during the neonatal period.
- To evaluate the completeness and trends of VACTERL screening over time in this cohort.
- To determine the prevalence of VACTERL-association and other genetic causes in ARM patients.
Main Methods:
- A retrospective, single-center cohort study included neonates diagnosed with ARM between 2000 and 2020.
- Full VACTERL screening involved spine imaging (x-ray, ultrasound), cardiac and renal ultrasound, and physical examination for specific anomalies.
- VACTERL classification criteria followed predefined EUROCAT definitions.
Main Results:
- 216 patients were included; 77.3% received full VACTERL screening, with protocol adherence increasing from 66% (2000-2006) to 86% (2014-2020).
- Additional anomalies were identified in 61.7% of fully screened patients.
- VACTERL-association was diagnosed in 16.2% of patients, and a genetic cause or syndrome was found in 17.1%.
Conclusions:
- Despite improved screening rates over two decades, approximately 23% of ARM patients did not undergo complete VACTERL screening.
- The study highlights the significant prevalence of VACTERL-association and genetic syndromes in ARM patients.
- Routine, comprehensive screening for associated anomalies in neonates with ARM is essential to prevent potentially severe future complications.
Background:
In children with anorectal malformations (ARM), additional anomalies can occur within the VACTERL-association. Routine screening is of great importance for early identification and potential treatment. However, uniformity in screening protocols is lacking and only small cohorts have been described in literature. The aim of this study was to assess and describe a unique large cohort of ARM patients who underwent VACTERL screening in the neonatal period.
Methods:
A retrospective mono-center cohort study was performed. Included were all neonates born between January 2000 and December 2020 who were diagnosed with ARM and screened for additional anomalies. Full screening consisted of x-ray and ultrasound of the spine, cardiac and renal ultrasound, and physical examination for limb deformities, esophageal atresia, and ARM. Criteria for VACTERL-classification were predefined according to the EUROCAT-definitions.
Results:
In total, 216 patients were included, of whom 167 (77.3%) underwent full VACTERL-screening (66% in 2000-2006 vs. 82% in 2007-2013 vs. 86% in 2014-2020). Median age at follow-up was 7.0 years (IQR 3.0-12.8). In 103/167 patients (61.7%), additional anomalies were identified. Some 35/216 patients (16.2%) fulfilled the criteria of a form of VACTERL-association. In 37/216 patients (17.1%), a genetic cause or syndrome was found.
Conclusions:
The majority of ARM patients underwent full screening to detect additional anomalies (77%), which improved over time to 86%. Yet, approximately a quarter of patients was not screened, with the potential of missing important additional anomalies that might have severe consequences in the future. Forms of VACTERL-association or genetic causes were found in 16% and 17% respectively. This study emphasizes the importance of routine screening.
Level Of Evidence:
III.
