دورية أكاديمية
The Importance of Screening for Additional Anomalies in Patients with Anorectal Malformations: A Retrospective Cohort Study.
| العنوان: | The Importance of Screening for Additional Anomalies in Patients with Anorectal Malformations: A Retrospective Cohort Study. |
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| المؤلفون: | de Beaufort CMC; Emma 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. Electronic address: c.m.debeaufort@amsterdamumc.nl., van den Akker ACM; Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, the Netherlands., Kuijper CF; Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Urology, Meibergdreef 9, Amsterdam, the Netherlands., Broers CJM; Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatrics, Meibergdreef 9, Amsterdam, the Netherlands., de Jong JR; Emma 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., de Beer SA; Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, the Netherlands., Straver B; Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Cardiology, Meibergdreef 9, Amsterdam, the Netherlands., Zwijnenburg PJG; Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Meibergdreef 9, Amsterdam, the Netherlands., Gorter RR; Emma 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. |
| المصدر: | Journal of pediatric surgery [J Pediatr Surg] 2023 Sep; Vol. 58 (9), pp. 1699-1707. Date of Electronic Publication: 2022 Nov 25. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Saunders Country of Publication: United States NLM ID: 0052631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-5037 (Electronic) Linking ISSN: 00223468 NLM ISO Abbreviation: J Pediatr Surg Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Philadelphia, PA : Saunders Original Publication: New York. |
| مواضيع طبية MeSH: | Anorectal Malformations*/diagnosis , Anorectal Malformations*/epidemiology , Limb Deformities, Congenital*/diagnostic imaging , Limb Deformities, Congenital*/epidemiology , Heart Defects, Congenital*/diagnosis , Heart Defects, Congenital*/epidemiology, Infant, Newborn ; Child ; Humans ; Child, Preschool ; Retrospective Studies ; Cohort Studies ; Esophagus/diagnostic imaging ; Esophagus/abnormalities ; Trachea/abnormalities ; Kidney/abnormalities ; Anal Canal/diagnostic imaging ; Anal Canal/abnormalities ; Spine/diagnostic imaging ; Spine/abnormalities |
| مستخلص: | 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. (Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Additional anomalies; Anorectal malformation; Genetics; Screening; VACTERL-Association |
| SCR Disease Name: | VACTERL association |
| تواريخ الأحداث: | Date Created: 20221231 Date Completed: 20230828 Latest Revision: 20230828 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1016/j.jpedsurg.2022.11.010 |
| PMID: | 36586784 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1531-5037 |
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| DOI: | 10.1016/j.jpedsurg.2022.11.010 |