This article is part of a five-part series developed by the Gynecology Committee of the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC), a group of medical providers dedicated to improving the health and quality of life of individuals affected by congenital colorectal disorders and associated urologic, gynecologic, and other anomalies. This first article introduces the series and reviews the case for coordinated gynecologic care in patients with anorectal malformations (ARM).
Key Points
- All patients with anorectal malformations (ARM) have an increased prevalence of gynecologic anomalies.
- Gynecologic care should be offered throughout the lifespan of patients with anorectal malformations. Efforts should be made to increase the standardization of care for patients with ARM and gynecologic concerns across institutions.
- Standardization of terminology used to describe anatomical differences and examination findings improves the care and communication for patients and providers across the patient's lifespan.
- Ongoing, longitudinal, and cross-institutional research is needed to continue to improve counseling, screening, and surgical decision making for patients with ARM and gynecologic anomalies.
Why Gynecologic Care Matters in ARM
Anorectal malformations (ARM) are a spectrum of anomalies of the gastrointestinal system, ranging from perineal fistula to the more complex persistent cloaca. Because of the close embryologic relationship between the cloaca and the urogenital sinus, anorectal malformations are often associated with anomalies of the genitourinary system. Gynecologic anomalies occur with ARM in 17–67% of cases, depending on the specific ARM diagnosis.
In non-cloaca ARM, 7–35% of patients have Müllerian anomalies, with a higher prevalence in patients with rectovestibular and rectoperineal fistula compared to ARM without a fistula. Patients with persistent cloaca have the highest incidence of a gynecologic anomaly, with up to 80% of patients reported to have co-occurring Müllerian anomalies. Persistent cloacas with longer common channels — typically greater than 3 cm in length, and among the most complex ARMs — have the highest incidence of concomitant gynecologic anomalies. Additionally, ARMs are a known component of the VACTERL association. Given that 25–39% of patients with VACTERL also have a concomitant gynecologic anomaly, recent publications have suggested a new terminology: VACTE(G)RLS.
Given the above, age-appropriate gynecologic care is warranted for all patients with an ARM across their lifespan. Gynecologic evaluation and counseling should begin at the time of the initial ARM diagnosis, and this care is particularly vital during peri-puberty and the transition to adult care, as concerns regarding menstrual, reproductive, and sexual function may represent immediate clinical necessities and patient-centered priorities. However, surveys indicate that patients with ARM routinely lack access to gynecologic care and evaluation, and that provider knowledge and expertise in the long-term care of gynecologic concerns in patients with ARM may be limited. Patients and families often indicate a desire for discussions of gynecologic anatomy and long-term gynecologic function, even at the initial diagnosis.
About This Series
This series aims to create a comprehensive framework for gynecologic care in patients with an ARM across their lifespan. The subsequent articles discuss methods and limitations of evaluating gynecologic anatomy, provide recommendations for gynecologic counseling at different developmental timepoints, review surgical interventions that may be performed at the time of ARM diagnosis or later in life, and discuss considerations for timing, technique, and post-operative care. The series also highlights longitudinal adolescent and young adult gynecologic screening, including menstrual management, sexual health, fertility, obstetric concerns, and transition of care goals.
While access to gynecologists with expertise in ARM care is ideal, it is not always accessible. The goal of this series is to provide a structured, practical framework to clarify essential gynecologic care points for all treating specialists and teams. Throughout the series, standardized, consistent terminology is used to describe anatomical differences and examination findings, in order to improve communication and consistency for patients, providers, and researchers across institutions.
The five articles in this series are:
- Gynecologic Care in Patients with Anorectal Malformations: A Primer and Call to Action (this article)
- Methods of Gynecologic Evaluation for Patients with Anorectal Malformations
- Prepubertal Gynecologic Evaluation and Management of Patients with Anorectal Malformations
- Postpubertal Gynecologic Evaluation and Management of Patients with Anorectal Malformations
- Long-Term Obstetric and Gynecologic Care for Patients with Anorectal Malformations
The State of the Evidence
Although much of the information provided in this series is informed by published research on gynecologic care in ARM, there is a paucity of high-quality Level I and II evidence, based on the American College of Obstetricians and Gynecologists' grading system. As such, when large case-controlled studies are not available, the recommendations in this series include Level III evidence from case series and from expert opinion. These articles were authored and reviewed by an expert panel of gynecologists within the PCPLC who provide gynecologic care to patients with ARM worldwide, and should be considered Level B and C recommendations.
High-quality data is needed to inform gynecologic care for patients with an ARM. Longitudinal data — providing information on care decisions and outcomes from infancy to adulthood — is especially warranted, as many medical decisions involving the reproductive tract are made in childhood with implications that may not surface until after menarche, coitarche, or pregnancy. Data repositories, where information can be collected on patients who seek care at multiple institutions throughout their lifespan, are paramount to collecting high-quality long-term data to inform management. Standardization of documentation regarding anatomical findings on imaging, examination, and surgical procedures will also be valuable, both for clarity of communication between providers and to allow for improved accuracy and application of research data.
While this series provides an outline for gynecologic care based on current data and expert opinion, it should also be viewed as a call to action for ongoing research in this area. The evaluation, management, and discussion of gynecologic needs in patients with an ARM has evolved significantly over the last 20 years, owing to improved collaboration between gynecology and pediatric surgical subspecialties working together to improve all aspects of patient care, including sexual and reproductive health. This series seeks to further advance both provider understanding and patients' access to excellent gynecologic care across the spectrum of ARM.
