Genetic Counseling and Diagnostics in Anorectal Malformation

This review examines the genetic etiology of anorectal malformations (ARM), which occur in 1 in 3,000 live births and may present as isolated anomalies or as part of recognizable syndromes. The article provides clinical guidelines for history-taking, diagnostic evaluation, and genetic counseling to help determine causation, guide treatment decisions, establish prognosis, and assess familial recurrence risk.