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

Anorectal malformations (ARM) are rare congenital anomalies occurring in approximately 1–3 per 5000 live born children [1]. ARM can be subclassified into different types of major clinical groups and rare/regional variants, according to the Krickenbeck classification [2]. ARM can occur as an isolated anomaly, but may also be part of the VACTERL association (Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb anomalies) or other underlying genetic causes or syndromes [3]. In approximately 60% of ARM patients, additional anomalies have been described, both in patients with relatively simple ARM types (e.g., recto-perineal or recto-vestibular fistula) as in more complex ARM types (e.g., recto-urethral fistula, cloacal anomalies) [4].

Additional urogenital anomalies are identified in approximately 50% of ARM patients, and can be divided into urological anomalies (i.e. urethral, bladder, ureteral, and renal anomalies) and gynecological anomalies (i.e. vaginal, cervical, and uterine anomalies) [5‐7]. Furthermore, a distinction between anatomical anomalies (e.g., vaginal septum, crossed fused ectopy, and mono-kidney), and functional disorders (e.g., vesico-ureteral reflux (VUR), neurogenic bladder, and symptoms of urinary tract infection (UTI)) can be made. Besides thorough physical examination after birth, different diagnostic methods such as renal ultrasound (US-kidney), cystoscopy, vaginoscopy, voiding cysto-urethrogram (VCUG), and abdominal magnetic resonance imaging (MRI)) can be used to screen for additional urogenital anomalies in ARM patients [8‐10]. Screening with cystoscopy and vaginoscopy is often performed on indication in children with complex ARM types, such as recto-urethral fistulae or cloacal anomalies, to confirm the presence and identify the level of the fistula or to measure the length of the common channel. However, cystoscopy and vaginoscopy itself might also have screening potential to identify urogenital anomalies in patients with simple ARM types (e.g., recto-perineal fistula), and in doing so, these procedures might be beneficial [11]. Therefore, in 2018, routine cysto- and/or vaginoscopy were implemented in the routine screening protocol as standard care prior to reconstructive surgery in Amsterdam UMC, for all patients with any type of ARM. For example, urethral valves might remain unidentified and potentially lead to increased bladder pressure with reflux and UTI’s as result. Nonetheless, screening protocols differ between expert centers [12].

Awareness of the potentially associated urogenital anomalies has increased over time, but discussion remains about the optimal diagnostic screening strategy and timing (e.g., in the first period of life) [6]. Comprehensive screening for additional urogenital anomalies might lead to early identification of these anomalies and subsequently improve (functional) outcomes [8, 13]. In addition, in some cases early identification of unexpected urogenital anomalies (e.g., vaginal atresia, urogenital sinus) may influence the reconstructive surgical strategy (e.g., approach and timing of the surgery) [14, 15]. Therefore, the aim of this study was to evaluated these modalities as routine screening instruments, and assess the number of ARM patients (both simple and complex types), that underwent routine screening with cystoscopy ± vaginoscopy in whom new additional urological and/or gynecological anomalies were identified. In addition, we assessed the number of patients with complications related to these procedures.

In our cohort, 27 of 38 patients (9 female and 18 male) underwent routine cysto- and/or vaginoscopy prior to reconstructive surgery, resulting in identification of additional urogenital anomalies in 44% and 61%, in the female and male population, respectively. Additional urogenital anomalies were identified in both ARM patients with both simple and more complex types. No complications during or after cysto- or vaginoscopy were encountered. In 56% of the patients that underwent cysto- and/or vaginoscopy additional anomalies were identified that were not suggested in history, seen with physical examination, or encountered on earlier imaging studies.

In this study, approximately 65% of ARM patients had a urogenital anomaly. Accurate data on the prevalence of urogenital anomalies in ARM patients is limited, but previous large cohort studies have described a prevalence of approximately 50% [8, 19‐21]. Prevalence in the literature might be lower because of underreporting or –diagnosis. Most of the described anomalies in literature were identified in patients who had complaints and not in patients who underwent routine screening (i.e. with US, cysto- and/or vaginoscopy). Therefore, urogenital anomalies may be missed in these of patients. In addition, evidence is lacking regarding the number of urogenital anomalies that are identified through cysto- and vaginoscopy. In our study, the prevalence of urogenital anomalies was slightly higher compared to previous studies, possibly due to the implementation of cysto- and vaginoscopy as a routine screening procedure. This is supported by the fact that in our study more than half (56%) of the patients with a urogenital anomaly, a new urogenital anomaly was diagnosed only with cysto- and/or vaginoscopy and not through history or with imaging studies. Remarkable is that in these previous studies, without routine screening but with analysis at a later age, the prevalence of urogenital anomalies in ARM patients is comparable to our study [5, 8]. These findings underline the potential importance of screening through routine cysto- and vaginoscopy at early age instead of waiting for symptoms.

Despite implementation of routine cystoscopy ± vaginoscopy as routine screening in ARM patients since late 2018 in our center, these procedures were not performed in 7 male (28%) and 4 female (31%) patients, respectively. However, over time, the number of patients that underwent these procedures has increased greatly (to 90%). This could be explained by the fact that implementation of novel (diagnostic) strategies into clinical care pathways take some time as it first has to overcome so called obstructing factors [22]. In addition, to be successful, implementation of procedures such as cysto- and vaginoscopy should be agreed upon by the complete multidisciplinary team. Moreover, different adaptation methods and speed may be used by different physicians (i.e. early versus late adopters with different opinions on whether to perform cysto- and/or vaginoscopy in patients with more simple ARM types) which may lead to refrain from performing standard cysto- or vaginoscopy. Unfortunately, the timeframe of this study was too short to investigate this. Therefore, a follow-up study is of interest to assess implementation over time.

Embedding routine cysto- and/or vaginoscopy in standard care might be beneficial for early identification of additional urogenital anomalies in patients with ARM, both for (specific) treatment and follow-up, as well as for patient and parental counseling when anomalies are found. In this study, none of the patients suffered any hazard from the cystoscopy of vaginoscopy. In the previous studies investigating cysto- and vaginoscopy in different patients than ARM, similar results of low complication rates were reported for cysto- and vaginoscopy [23‐26]. Further research should be performed to assess the financial aspects of these extra procedures prior to surgical reconstruction (i.e. longer operation time and higher costs), as well as the potential negative or positive impact that the identification of additional urogenital anomalies might have on patients and parents well-being (e.g., quality of life and quality adjusted life years) in relation to its consequences. Furthermore, in our study, in 1 patient a short urethra of 1.2 cm was identified, but measuring the urethral length with the use of cystoscopy in a small child is difficult and adequate or normal urethral lengths are not widely used and agreed upon, resulting in a remaining topic of discussion [27, 28]. Additionally, since in 1 patient the reconstructive surgery was postponed due to abnormal findings (vaginal atresia) with vaginoscopy that were not found with physical examination, it should be investigated whether surgical strategies were altered after identifying new urogenital anomalies direct prior to reconstructive surgery. Finally, future research should be performed to show if there is a possible association between types of ARM and additional urogenital anomalies.

This study should be interpreted in light of some strengths and limitations. First, to our knowledge this is the first study evaluating outcomes of standard cysto- and/or vaginoscopy prior to reconstructive surgery in ARM patients. Second, we were able to show that in half of the patients that underwent cysto- or vaginoscopy, new urogenital anomalies were identified, which were not identified through physical examination and history or with imaging studies. By incorporating routine cysto- and/or vaginoscopy prior to reconstructive surgery, this might lead to earlier diagnosis and thus earlier treatment (e.g., urethral valve or syringocele incision, septal cleaving for vaginal septum). However, although cysto- and vaginoscopy were performed by a specialized multidisciplinary team with a key role for the pediatric urologist, the identified urogenital anomalies might be subject to inter observer variability. Furthermore, due to the retrospective nature of this study, information and selection bias are likely present. To reduce this to a minimum, data was extracted by the primary researcher (CB) with a data check by another coauthor (TM) and all patients were consecutively included between 2019 and 2022. Because ARM is extremely rare, only a small number of patients could be included and extensive statistical analyses were not possible. Even though numbers are small, it is important to report these data, to open a discussion on whether or not routine cysto- and/or vaginoscopy is indicated and of importance as standard care in patients with ARM.

In conclusion, 71% of our ARM patients underwent routine cysto- and vaginoscopy in female patients and cystoscopy in male patients prior to reconstructive surgery, without occurrence of complications. In more than half of the patients that underwent these procedures, new urogenital anomalies were identified through cysto- or vaginoscopy that were not found with history, physical examination or imaging studies. This emphasizes the potential benefit and importance of routine cystoscopy and/or vaginoscopy in the diagnostic work-up prior to reconstructive surgery in patients with ARM.