Diagnosing Mild Forms of Anorectal Malformation With Anorectal Manometry: A Prospective Study

Abstract

INTRODUCTION: Rectoperineal congenital anorectal malformations (CARMs) are diagnosed by examining the perineum, combined with electric stimulation (ES) of the anal sphincter performed under anesthesia. This procedure may be troublesome because it is based on the observed contractibility of the sphincter. We aimed to add 3-dimensional high-resolution anorectal manometry (3D-HRAM) to the procedure and to assess its value for diagnosing rectoperineal forms of CARM. METHODS: We prospectively included 66 patients younger than 24 months who presented with constipation and were suspected of CARM, idiopathic constipation, or Hirschsprung disease. The patients were assessed between 2015 and 2021 at University Medical Center Groningen, the Netherlands. All patients underwent 3D-HRAM, followed by the standard diagnostic procedure for either CARM or Hirschsprung disease. RESULTS: Of the 51 patients who underwent both 3D-HRAM and ES, we observed that patients with rectoperineal CARM revealed a pressure gap along the anterior part of the anal sphincter. Based on this observation, we diagnosed 35 patients with CARM. Subsequently, all 35 diagnoses were confirmed with ES. Sixteen patients were diagnosed as not having CARM, 100% of whom were in agreement with the gold standard—ES. Both the specificity and sensitivity of 3D-HRAM for diagnosing rectoperineal CARM were 100%. DISCUSSION: We consider 3D-HRAM a reliable tool for diagnosing and excluding rectoperineal CARM. Using this method in patients suspected of CARM might keep infants from undergoing unnecessary interventions requiring anesthetics, such as ES. By providing objective insight into the functional capabilities of the anal sphincter, anorectal manometry adds to the diagnosis.

Exploring GI Diseases Across the Lifespan

“…A child cannot be approached as a small adult, and similarly, an older adult has unique issues that are distinct from younger individuals (4,5). Diagnostic dilemmas, screening strategies, medication delivery, pharmacodynamics and pharmacokinetics, and communication between patients, families, and providers are some of the major issues encountered by clinicians (6–9). In addition to medical care, the extremes of age also bring cost and healthcare delivery concerns, which several of our published articles focus upon (5,10,11).…”

A Predictive Model to Identify the Effects of Transcutaneous Sacral Nerve Stimulation With Pelvic Floor Exercises in Fecal Incontinence After Surgery for Anorectal Malformation

“…However, it cannot reflect anal sphincter function, which is critical in selecting management strategies. High-resolution anorectal manometry (HRAM), the latest internationally recognized technique for anorectal manometry because of its accurate, stable, and repeatable nature, can provide more realistic information on anal sphincter function in patients with CARM and can help plan FI management strategies (13,14). The 3-dimensional (3D) HRAM is expected to detect pressure defects of the anal pressure profile in more detail than conventional manometry.…”

Getting to the Bottom of It: Reducing the Burden of Congenital Anorectal Malformation Diagnostic Testing

“…Identifying a diagnostic algorithm that is less invasive is of clear clinical interest. The current study by den Hollander et al examines a novel use of 3-dimensional high-resolution anorectal manometry (3D-HRAM) in diagnosing and confirming the presence of an anorectal perineal fistula that represents a significant advance toward an anesthesia-free approach when diagnosing CARMs in children (2).…”

“…Unsurprisingly, with the heterogeneity of the various CARMs, identifying a systematic and minimally invasive diagnostic approach to their categorization is of clinical importance (1). In this regard, den Hollander et al offer an important advance in the CARM literature (2).…”