Genetic Counseling and Diagnostics in Anorectal Malformation
dx.doi.org shows its articles on its own site.
Read the article on dx.doi.org ↗Article · Dec 2021 · 1 min read
In brief
In brief
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.
Written by the GCMD Library team from the article.
Anorectal malformation (ARM) is a relatively frequently occurring congenital anomaly of hindgut development with a prevalence of 1 in 3,000 live births. ARM may present as an isolated anomaly, but it can also be associated with other anomalies, sometimes as part of a recognizable syndrome. After birth, much medical attention is given to the treatment and restoring of bowel function in children with ARM. Effort should also be given to studying the etiology of the ARM in these patients. This information is important to both the medical community and the family, because it can help guide treatment and provides information on the long-term prognosis of the patient and recurrence risk in the family.
In this article, we will review the current knowledge on the (genetic) etiology of (syndromic) ARM and provide guidelines for (family) history taking and clinical and genetic studies of ARM patients and their families, which is needed to study the causal factors in an ARM patient and for genetic counseling of the families.