ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part I: Diagnostics

Abstract

Introduction Anorectal malformations (ARMs) are rare congenital anomalies that involve the anus, rectum, and oftentimes the genitourinary tract. The management of ARM patients is complex, and many controversies exist. To address this issue, the European Reference Network eUROGEN for rare and complex urogenital conditions aimed to develop comprehensive guidelines for the management of ARM.

Methods The Dutch Quality Standard for ARM served as the basis for the development of guidelines applicable on a European level. Literature was searched in Medline, Embase, and Cochrane. The ADAPTE method was utilized to incorporate the newest available evidence. A panel of 15 experts from 7 European countries assessed currency, acceptability, and applicability of recommendations. Recommendations from the Dutch Quality Standard were adapted, adopted, or rejected, and recommendations were formed considering current evidence and/or expert consensus.

Results Prenatal and neonatal diagnostic workup as well as postsurgical follow-up of anorectal, genitourinary tract, and neurologic system were reviewed. Seven new studies were identified. The panel adapted 13 recommendations, adopted 7, and developed 8 de novo. The availability of high-quality evidence was limited, and most recommendations were based on retrospective studies, case series, or expert opinion.

Conclusion Patients with ARM and their families require highly specialized and comprehensive care from the prenatal period to adulthood. This guideline provides recommendations for a comprehensive diagnostic workup of children with ARM throughout their life that is applicable on a European level.

Keywords

ARM - guidelines - quality standard - evidence-based - consensus statement

Introduction

Anorectal malformations (ARMs) are rare congenital anomalies and the incidence varies between 1:3,500 and 1:5,000 live births.[1] The term ARM encompasses a wide spectrum of malformations that can affect both females and males and involves the distal anus and rectum and oftentimes the genitourinary tract and reproductive organs. Defects range from minor to complex and associated anomalies are present in the majority of patients.[1] [2] [3] [4]

The management of patients with ARM is complex. Many caveats and controversies regarding diagnostic modalities, operative and nonoperative treatment strategies, management of associated anomalies, follow-up, and transition of care exist. Currently, there is a lack of systematically developed guidelines applicable on a broader European level, even though there is a great need for more awareness, knowledge, and standardization among health care providers caring for patients with ARM. To address this issue, the European Reference Network (ERN) eUROGEN for rare and complex urogenital conditions convened a panel of experts (the Adoption and Adaptation Working Group [AAWG]) with the aim to develop comprehensive guidelines for the management of ARM. ERN eUROGEN comprises 56 health care providers from 20 countries caring for approximately 12,500 patients each year.[5] The Dutch “Quality Standard for Anorectal Malformations,” which was first introduced in 2020 served as the basis for a subsequent adaptation process on a European level.[6] The ADAPTE method was utilized to incorporate the newest available evidence and to fit the European context.[7]

The adaptation report is divided in six categories: diagnostics, treatment, organization of care, collaboration, referral and communication between providers, lifelong follow-up, and transition of care. This article will focus on recommendations for prenatal, neonatal, perioperative, and long-term diagnostics for ARM.

Methods

The Dutch Quality Standard for ARM was adapted in adherence with the ADAPTE method.[7] The systematic searches for the Dutch Quality Standard were performed in 2017 and 2018, hence an update of the systematic search was performed to identify studies published after 2017 in the following databases: Medline, Embase, and Cochrane. The full search strategies are available in the [Supplementary Materials]. Systematic reviews or original studies focusing on the diagnosis of ARM patients were considered for inclusion if the research topic matched at least one of the preselected clinical questions. As an additional criterion for eligibility, studies had to provide evidence that could potentially change recommendations outlined in the Dutch Quality Standard. All included studies were summarized and presented to the AAWG together with an overview of the original recommendations. The AAWG consisted of 15 members, from 7 different European countries, among which were two patient representatives (The Netherlands: 3, Germany: 3, Italy: 3, France: 3, Sweden: 1, Belgium: 1, Ireland: 1).

Additionally, the Appraisal of Guidelines for Research and Evaluation II instrument was used to independently assess the methodological quality of the Dutch Quality Standard for Anorectal Malformations and guide the panel in their assessment of recommendations.[8] Four reviewers performed the appraisal (two reviewers from the Aragon Institute of Health Sciences and two from the ERN eUROGEN AAWG) ([Supplementary Material]).

During a face-to-face meeting in Nijmegen (The Netherlands) currency, acceptability and applicability of all recommendations were assessed by the AAWG. After considering all new evidence and recommendations, the AAWG decided to either reject, adopt, adapt, or develop a new recommendation ([Table 1]). To improve the rigor of development compared with the Dutch Quality Standard, the AAWG and methodologists (W.I., K.M.) decided to issue a grade of recommendation for all recommendations ([Table 2]). For some recommendations, it was unclear from the Dutch Quality Standard whether this recommendation was based on expert opinion only or if there was also supporting evidence. In this case, the recommendation was discussed by the AAWG, and a grade D recommendation (“expert opinion”) was chosen if there was no supporting evidence.

Table 1 Definition of adopted, adapted, and new recommendations

Adopted	Recommendation is endorsed by the AAWG without changes
Adapted	Recommendation was modified and adapted to the needs and context of the ERN
New	Recommendation was created based on the included new evidence or expert opinion

Abbreviations: AAWG, Adoption and Adaptation Working Group; ERN, European Reference Network.

Table 2 Correspondence between grades of recommendations and study level of evidence

A	Based on consistent level 1 studies
B	Based on consistent level 2 or 3 studies or extrapolations from level 1 studies
C	Based on level 4 studies or extrapolations from level 2 or 3 studies
D	Based on expert opinion or inconclusive/inconsistent studies of any level

Results

During the adaptation and appraisal process of the Dutch Quality Standard, areas of consensus were identified and areas of ambiguity that require further research were revealed. Upon review of the existing literature, the panel found that the majority of studies lacked high-quality evidence and their design was mostly restricted to retrospective reviews and case series. As a result of the appraisal and adaptation process, the following subquestions from the Dutch “Quality Standard for Anorectal Malformations” were reassessed:

• (1) Which diagnostics do you need to make a diagnosis of ARM and to determine which type of ARM is involved, and which diagnostics do you need to determine additional comorbidity?

• (2) Which diagnostic examinations are performed during and after the various surgeries, and which diagnostics are important during follow-up?

• (3) Which urological examinations should be performed and when?

• (4) Which diagnostic examinations of the reproductive system should be performed and when?

• (5) What are the indications for additional neurological examination?

A total of seven new studies addressing diagnostics in ARM were identified and considered by the panel in their recommendations.[9] [10] [11] [12] [13] [14] [15] A detailed summary of all newly included studies for each subquestion is provided in the [Supplementary Material], available in the online version. Overall, 13 recommendations were adapted from the Dutch “Quality Standard for Anorectal Malformations,” 7 were adopted and 8 were developed de novo. Key recommendations of the panel according to the available evidence are summarized in [Fig. 1].

Fig. 1 Key recommendations for a comprehensive diagnostic workup of children with anorectal malformation (ARM) from the prenatal period to adulthood (made with Biorender).

Recommendations for Prenatal and Neonatal Diagnostic Workup

• 1. Which diagnostics do you need to make a diagnosis of ARM and to determine which type of ARM is involved, and which diagnostics do you need to determine additional comorbidity?

Prenatal Period

Timely and accurate diagnosis of ARM and associated malformations is essential to ensure optimal treatment. To date, less than half of ARM are diagnosed prenatally, and awareness of sonographers should be increased[9] [10] [13] ([Table 3]). Typical signs of ARM on ultrasound include the presence of a dilated colon or rectum with or without anal target sign, which is indicative of a “lower” or “higher” ARM, respectively.[10] Identification of changes within the perianal muscular complex may help in identifying ARM but have low sensitivity and specificity.[11] Cystic pelvical mass or hydrocolpos, a cystic dilation of the vagina due to accumulation of cervical and vaginal secretions, should prompt early and close follow-up, and a high suspicion for ARM, specifically of a cloacal malformation should be maintained, even if the mass disappears on follow-up scans.[12] In case of suspected cloacal malformation, fetal magnetic resonance imaging (MRI) may be considered.[13]

Table 3 Recommendations for prenatal and neonatal diagnostic workup

Prenatal		Grade of recommendation
1	It is recommended to increase the awareness of ultrasound technicians/sonographers about the possible diagnosis of ARM before birth with prenatal ultrasound examination [adapted]	B[9]
2	A dilated bowel with absence of the anal target sign (ATS) might be indicative of ''higher'' ARM [new]	D
3	The visualization of the anal target sign is feasible by prenatal ultrasound and may aid in the detection of ''lower'' ARM [new]	B[10]
4	Identification of a perianal muscular complex during prenatal US evaluation could be useful for prenatal diagnosis but its sensitivity and specificity for ARM is low and a positive finding does not exclude low type ARM [new]	C[11]
5	In case of an increased risk of abnormalities, it is recommended to perform an advanced ultrasound examination between 18 and 22 weeks of pregnancy [adapted]	D
6	Sonographers must be aware of dilation of the last part of the colon/rectum. ARM may be suspected if the distal bowel is dilated on the first trimester ultrasound or if intraluminal echogenic foci are seen on the second trimester ultrasound [adopted]	D
7	It is recommended to follow up early (1st trimester) a cystic abdominal mass while maintaining a high index of suspicion for ARM even if the cystic mass disappears on follow-up scans, especially in isolated cases with normal genetics [new]	D[12]
8	Fetal MRI may be considered in case of ultrasound identified hydrocolpos and suspected cloacal malformation [new]	C[13]
9	The possibility of a present cloaca should be suspected antenatally in case of a cystic mass in the pelvis, that matches a hydrocolpos, and, in some cases, also by the presence of an expanded intestinal loop in the pelvis. Later in the pregnancy (more than 24 weeks), it is possible to visualize and assess the anal target sign [adapted]	D
Neonatal
1	In the acute phase, the first 24–48 hours after birth, ARM must be diagnosed by history and physical examination [adopted]	D
2	In the diagnostic phase, the type of ARM (according to the Krickenbeck classification) and any additional anomalies should be carefully mapped out prior to any attempts to repair the ARM. Different diagnostic methods are available to map the phenotype but there is no evidence of superiority of one over the other [adapted]	D
3	To qualify the condition, the digestive tract, the urogenital tract, the neuromuscular tract, the circulatory tract, and the respiratory tract must be or should be examined. In particular, disorders of the VACTERL association (3 or more abnormalities) are also looked for: V = Vertebrae, anomalies of the vertebrae A = Anus, an anorectal malformation C = Cardiac, anomalies of the heart TE = Tracheoesophageal abnormality, occlusion or narrowing of the esophagus with possibly a connection to the trachea R = Renal, abnormality of the kidney, urinary tracts, or bladder L = Limb, limb abnormalities [adapted]	D
4	Spinal and renal/urinary tract ultrasound in the first weeks of life are recommended to screen for spinal cord and urological anomalies [new]	D
5	In case of ARM with at least one other anomaly, consultation with a clinical geneticist is strongly recommended [new]	B[17]
6	At the end of the diagnostic phase, the patient-specific abnormality must be clearly documented and saved throughout the life of the patient. Any digital data (diagnostic data) should also be saved [adapted]	D
7	Apart from perineal and vestibular fistulas, it is absolutely mandatory to determine the type of fistula (if any) before proceeding to the reconstructive surgery to minimize the risk for surgical complications. This can be done by high-pressure colostogram, MRI, and/or cystoscopy [new]	D

Abbreviations: ARM, anorectal malformation; MRI, magnetic resonance imaging; US, ultrasound.

Neonatal Period

ARM must be diagnosed within 24 to 48 hours after birth ([Table 3]). The type of ARM according to the Krickenbeck classification and associated malformations (phenotype) has to be identified and documented before attempting reconstruction. Specifically, congenital anomalies of the VACTERL association should be sought out. Spinal and urinary tract anomalies occur in up to one-third and half of the patients, respectively, and should be screened for by ultrasound in the first weeks of life.[1] [4] [14] [16] Consultation with a geneticist is strongly recommended if one or more additional anomalies are identified.[17] Lastly, precise characterization of the type of malformation is mandatory before definitive reconstruction and can be achieved by high-pressure distal colostogram, MRI, and/or cystoscopy. In contrast, measurement of the pouch-perineum distance may lead to misdiagnosis as well as incorrect planning and execution of the surgical reconstruction and cannot be recommended.[15]

Recommendations for Diagnostic Workup during and after Surgery and during Follow-Up

• 2. Which diagnostic examinations are performed during and after the various surgeries and which diagnostics are important during follow-up?

ARM patients should be monitored closely after reconstructive surgery. A thorough physical examination to evaluate the function and integrity of the perineal reconstruction and the urogenital tract should be performed within 3 weeks after surgery ([Table 4]). This includes visual assessment of the perineum and healing process and painless calibration of the neo-anus to ensure adequate size. In case of a stoma creation, a proper stoma care is recommended.

• 3. Which urological examinations should be performed and when?

Table 4 Recommendations for diagnostic workup during and after surgeries and follow-up

During and after surgeries and during follow-up		Grade of recommendation
1	After reconstructive surgery the patient should be monitored closely (within 3-week period). A diagnostic examination must be conducted on the function and integrity of the perineal reconstruction of the digestive tract and the urogenital tract. In case of a stoma, creation a proper stoma care is recommended [adapted]	D
2	Children with ARM and a suspicion of urological problems should be seen by a pediatric urologist during follow-up. If indicated, urological examination can include (V)UD, cystoscopy, or cystography [adapted]	D

Abbreviations: ARM, anorectal malformation; (V)UD, (video-) urodynamic.

Children with ARM are prone to urological problems such as recurrent urinary tract infections, persistent large residual urine volumes, decreased renal function, absence of spontaneous micturition, or bladder dysfunction, due to changes in anatomic features or underlying spinal anomalies (e.g., tethered cord).[1] [18] [19] Additionally, (postoperative) dilation of the urinary tract and vesicoureteral reflux may be present.[2] If suspicion of urological problems arises, children with ARM should be referred to a pediatric urologist ([Table 4]). Urological examinations should only be performed after thorough evaluation of risks and benefits and can include urinalysis, urinary tract ultrasound, (video-) urodynamic studies ((V)UD), cystoscopy, or cystography. (V)UD should be limited to children with symptoms suggestive of lower urinary tract dysfunction and not take place before 6 months after reconstructive surgery.[19]

Recommendations for Diagnostic Workup of the Reproductive System

• 4. Which diagnostic examinations of the reproductive system should be performed and when?

The term ARM encompasses a wide range of diagnoses with different degrees of severity. Thus, children with ARM have unique anatomical variations of not only the digestive and urological tracts, but also of their reproductive organs. This affects both male and female ARM patients. Careful evaluation and documentation of external and, if feasible, internal genitalia should be undertaken prior to or at the time of reconstruction ([Table 5]). This may include cystovaginoscopy or MRI. In case of genitourinary abnormalities, a multidisciplinary team including (pediatric) gynecologists or centers with expertise in management of ARM should be consulted. A hydrocolpos may manifest as a cystic mass in the lower abdomen and cause obstructive uropathy and hydronephrosis. Particularly, females with cloacal malformation or imperforate hymen are at increased risk of hydrocolpos.[20] In any case, hydrocolpos should be managed with either intermittent catheterization of the vagina or tube vaginostomy.[21]

Table 5 Recommendations for diagnostic workup of the reproductive system

Reproductive systems		Grade of recommendation
1	Proper evaluation and documentation of the external and, if possible, internal genitalia of patients with ARM is required prior to, or at the time of reconstructive surgery (cystovaginoscopy or MRI) [adapted]	D
2	To optimize the results for the patient during a possible surgical intervention, in the case of abnormalities in the genitourinary area of patients with ARM, it is recommended to always consult a multidisciplinary team and document well their findings. Prior to the onset of puberty, a (pediatric) gynecologist (preferably with expertise in the field of anorectal malformations) should assess and document the anatomical situation to optimize follow-up treatment in menarche/adolescence [adopted]	D
3	A hydrocolpos (occlusion of the vagina/uterus with mucus buildup) may appear as a cystic swelling in the lower abdomen, especially in females with a cloaca, but can also be seen with an imperforate hymen. The filled vagina can compress the urethra and ureters and thus obstruct the flow of urine and cause hydronephrosis. In case of no or poor urination, careful examination must be done. A diagnosed hydrocolpos must be surgically relieved. Any hydronephrosis should be monitored closely in the context of a hydrocolpos in at least the first months of life [adopted]	D
4	Attention is also recommended for the prevention of gynecological anomalies in females with ARM as this can prevent (distal) vaginal stenosis, which can hinder tampon use and sexual contact [adopted]	D
5	At the beginning of adolescence, females and males with ARM must be provided with information about the possibilities of problems in sexuality, fertility, and reproduction [adapted]	D
6	Females with ARM must be supervised and examined by a gynecologist (preferably with experience in ARM) and have access to a pediatric surgeon (experienced in the field of ARM) during pregnancy [adapted]	D
7	In females with a history of ARM and an abnormal perineum, it is recommended that the perineum be properly examined both preconceptually and during the entire pregnancy. An individual recommendation must be made on how the patient can give birth. When in doubt, the choice of caesarean section should be strongly considered [adapted]	D

Abbreviations: ARM, anorectal malformation; MRI, magnetic resonance imaging.

Involvement of gynecologists should not be limited to the neonatal period and time of surgical reconstruction but extend throughout life. Prior to puberty, anatomical features should be evaluated, possibly with abdominal ultrasound, and need for additional intervention assessed. Gynecological anomalies leading to vaginal stenosis, for example, in patients with rectovestibular fistula, should be prevented, as this can hinder tampon use or sexual contact.

Sexual dysfunction in females and erectile dysfunction in males are reported with a prevalence of 50 and 12%, respectively.[18] Surveys conducted in adult ARM populations have found that ARM patients tend to engage in sexual activity later than the general population and that fecal or urinary incontinence affects they body image and psychosexual health.[22] [23] [24] [25] The overall birth rates in patients with ARM, excluding patients with cloacal malformation, are estimated to be 20%.[18] Additionally, hydrocolpos in the neonatal period can reduce fertility due to infection and scarring.[20] Thus, both females and males with ARM must be informed about the possibilities of problems in sexuality, fertility, and reproduction at the beginning of adolescence.

In case of pregnancy, patients must be followed by gynecologists, preferably with experience in ARM and have access to a pediatric surgeon with expertise in ARM. Females with a history of abnormal perineum should be carefully examined preconceptually and closely monitored during pregnancy. While vaginal delivery is possible, caesarean section should strongly be considered if any doubt about spontaneous delivery arises and offered to patients who wish to have it.[26]

Recommendations for Performing Additional Neurological Examinations

• 5. What are the indications for additional neurological examination?

Between 10 and 60% of patients with ARM suffer from tethered spinal cord or other spinal anomalies.[17] Associated neurological conditions, along with type of ARM and quality of perineal reconstruction, however, dictate the continence prognosis in the long term and it is essential to diagnose them early. Thus, every ARM patient should be screened for spinal cord dysraphism ([Table 6]). Many patients have vertebral of sacral malformations and proper development of the vertebra and sacrum can be assessed by radiological evaluation.[4] [14] [16] Additionally, it is recommended that all children undergo ultrasound of the spinal canal within the first month of life.[27] Evaluation at a later time point precludes adequate assessment of the spinal canal, as vertebral arches may have closed.

Table 6 Recommendations for performing additional neurological examinations

Neurological examination		Grade of recommendation
1	Spinal cord dysraphism (SCD) can be an additional condition in patients with ARM and it is recommended that all patients with ARM must be screened [adopted]	D
2	In addition to the radiological evaluation of the vertebra and sacrum, it is recommended to perform an ultrasound of the spinal canal. The spinal canal ultrasound is performed shortly after birth, but at least in the first month, because otherwise the vertebral arches may close, and an ultrasound scan of the spinal canal is less reliable to rule out anomalies. If there are abnormalities on the ultrasound of the spinal cord, follow-up is needed for symptoms preferably with the help of a pediatric neurologist [adopted]	D
3	If indicated, in case of neurological symptoms or abnormal signs on vertebra, sacrum, or spinal canal, a MRI can be conducted before the age of 12 months. Workup: • A deteriorating neurological image (sensorimotor and/or continence) during follow-up can be an indication to consult a pediatric neurologist to evaluate the presence or not of a tethered cord or any other spinal anomaly [adapted]	D

Abbreviations: ARM, anorectal malformation; MRI, magnetic resonance imaging.

In case of neurological symptoms or abnormalities of the vertebra, sacrum, or spinal canal, a pediatric neurologist should be consulted, and an MRI may be considered before the age of 12 months. Accordingly, if during follow-up neurological symptoms appear or increase (e.g., worsening of continence or deterioration of sensorimotor capabilities), a pediatric neurologist or neurosurgeon should also be involved.

Evidence Gaps and Future Research

Knowledge gaps persist in the field of diagnostics of ARM, warranting future research efforts. Due to limited availability of high-quality and high level of evidence studies, many recommendations are based on expert consensus rather than evidence. Currently, prenatal detection rates for ARM are low and accurate prediction of the type of ARM is scarce. Recommendations for the management of associated urological or neurological conditions exist but exact diagnostic modalities remain at the discretion of the corresponding pediatric urologist or neurologist.[27] [28] While the anal target sign represents a potential prenatal diagnostic marker, it needs to be defined more clearly and future studies should clarify its role in routine prenatal ultrasound. Lastly, little is known about the reproductive health, especially of female ARM patients and our understanding of fertility and pregnancy risks mostly stems from small studies or case series.[3] [18] [26]

Conclusion

Patients with ARM and their families (or guardians) require highly specialized and comprehensive care from the prenatal period to adulthood. This eUROGEN guideline, redacted by an expert panel from 13 major European centers, offers recommendations for the diagnostics of ARM that are applicable on a European level and informed by the best available evidence and opinions of experts.

Conflict of Interest

We would like to disclose that two of the authors of this adaptation report (I.D.B., C.E.J.S.) were also authors of the Dutch Quality Standard. However, it is important to note that neither I.D.B. nor C.E.J.S. has any conflict of interest to declare and they did not advocate for any particular viewpoints or positions in relation to the content of the Dutch Quality Standard. No conflicting interests were declared from the other authors.

Acknowledgments

We would like to acknowledge Elena Stallings, Patricia Gavin Benavent, Maria Jose Vicente Edo, and Montserrat Salas Valero from Aragon Health Sciences Institute (IACS, Spain) for their work on this project within the TENDER SANTE/2018/B3/030 “ERN Clinical Practice Guidelines (CPGs) and other Clinical Decision Support Tools (CDSTs).” Further, we would like to acknowledge the representatives of the patient organizations AIMAR and SoMA e.V. for their valuable insights and input.

Collaboration

This work was performed in collaboration with experts involved in ERN ERNICA, EUPSA, and Qualicura.

^* Martin Lacher and Jan-Hendrik Gosemann have contributed equally to this article.

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Publication History

Received: 14 August 2024

Accepted: 27 August 2024

Article published online:
11 October 2024