ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part I: Diagnostics

Area of Science:

• Pediatric Surgery
• Urology
• Genetics

Background:

• Anorectal malformations (ARM) are rare congenital anomalies impacting the anus, rectum, and genitourinary tract.
• Management of ARM is complex with existing controversies.
• The European Reference Network eUROGEN initiated guideline development for ARM management.

Purpose of the Study:

• To develop comprehensive, European-level guidelines for managing patients with anorectal malformations.
• To address complexities and controversies in ARM patient care.
• To provide a standardized approach from prenatal diagnosis to adulthood.

Main Methods:

• Adapted the Dutch Quality Standard for ARM as a foundation.
• Conducted a literature search across Medline, Embase, and Cochrane databases.
• Utilized the ADAPTE method for evidence incorporation and expert consensus from a 15-member European panel.

Main Results:

• Reviewed diagnostic workup (prenatal, neonatal) and follow-up for anorectal, genitourinary, and neurologic systems.
• Adapted 13, adopted 7, and developed 8 new recommendations.
• Limited high-quality evidence; most recommendations based on retrospective studies or expert opinion.

Conclusions:

• Patients with ARM require lifelong, specialized, and comprehensive care.
• The guideline offers recommendations for a holistic diagnostic workup for children with ARM.
• The developed guidelines are applicable across Europe, promoting standardized care.