Congenital Heart Defects in Patients with Anorectal Malformations: A Retrospective Cohort Study of 281 Patients.

In patients born with anorectal malformations (ARM), additional congenital heart defects (CHD) can occur. We aimed to provide an overview on disease and treatment details of CHD identified in patients born with ARM, from a unique large cohort of a very rare disease. We performed a retrospective single-center cohort study between January 2000 and July 2023.

Potential benefits of routine cystoscopy and vaginoscopy prior to reconstructive surgery in patients with an anorectal malformation.

Purpose: First, to assess the number of patients with anorectal malformations (ARM) in whom additional urological and/or gynecological anomalies were identified through routine screening with cysto- or vaginoscopy prior to reconstructive surgery. Second, to assess potential procedure-related complications.

Methods: Retrospective mono-center cohort study, including all ARM patients born between January 2019 and December 2022.

Anatomical Gynecological Anomalies in Girls Born with Anorectal Malformations: A Retrospective Cohort Study of 128 Patients.

Study Objective: In girls born with an anorectal malformation (ARM), anatomical gynecological anomalies (GA) may be present and might need treatment. Therefore, the aim of this study was to provide an overview of GA in girls born with ARM in our cohort. Additionally, diagnostic timing and methods for GA were assessed.

Rectal atresia and rectal stenosis: the ARM-Net Consortium experience.

Purpose: To assess the number, characteristics, and functional short-, and midterm outcomes of patients with rectal atresia (RA) and stenosis (RS) in the ARM-Net registry.

Methods: Patients with RA/RS were retrieved from the ARM-Net registry. Patient characteristics, associated anomalies, surgical approach, and functional bowel outcomes at 1 and 5-year follow-up were assessed.

Transitional Care for Patients with Congenital Colorectal Diseases: An EUPSA Network Office, ERNICA, and eUROGEN Joint Venture.

Background: Transition of care (TOC; from childhood into adulthood) of patients with anorectal malformations (ARM) and Hirschsprung disease (HD) ensures continuation of care for these patients. The aim of this international study was to assess the current status of TOC and adult care (AC) programs for patients with ARM and HD.

Methods: A survey was developed by members of EUPSA, ERN eUROGEN, and ERNICA, including patient representatives (ePAGs), comprising of four domains: general information, general questions about transition to adulthood, and disease-specific questions regarding TOC and AC programs.

Children with an Anorectal Malformation Going to Primary School: The Parent's Perspective.

Background: Continence problems occur often in children with anorectal malformations (ARM). The aim of this study was to evaluate parental experiences with toilet facilities at Dutch primary schools and their experience with how schools deal with ARM children.

Methods: This survey was developed in collaboration with the national patient advocacy group (PAG).

Additional Anomalies in Children with Gastroschisis and Omphalocele: A Retrospective Cohort Study.

Background: Congenital abdominal wall defects might be associated with other anomalies, such as atresia in gastroschisis and cardiac anomalies in omphalocele patients. However, in the current literature, an overview of these additional anomalies and potential patient-specific risk factors is missing. Therefore, we aimed to assess the prevalence of associated anomalies and their patient-specific risk factors in patients with gastroschisis and omphalocele.

Spinal cord anomalies in children with anorectal malformations: a retrospective cohort study.

Purpose: First, to assess the number of spinal cord anomalies (SCA), specifically tethered spinal cord (TSC) in patients with anorectal malformations (ARM), identified with spinal cord imaging (i.e. spinal cord US and/or MRI).

The Importance of Screening for Additional Anomalies in Patients with Anorectal Malformations: A Retrospective Cohort Study.

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.

Outcomes after Surgical Treatment for Rectal Atresia in Children: Is There a Preferred Approach? A Systematic Review.

Rectal atresia (RA) affects only 1 to 2% of all children with anorectal malformations. No consensus on optimal treatment strategy is yet achieved. Therefore, the aim of this systematic review is to summarize all surgical interventions for RA and outcomes described in the current literature.