Imperforate Anus Research Articles

The Analysis of the Fetal Abdominal Wall and Gastrointestinal Tract Abnormalities in a Single Tertiary Center

OBJECTIVE: We aimed to evaluate the fetuses with gastrointestinal anomalies and anterior abdominal wall defects detected in the prenatal period in our clinic and to analyze their perinatal outcomes. STUDY DESIGN: This retrospective study analyzed the data of 67 cases evaluated by the perinatology department of the Basaksehir Cam and Sakura City Hospital between January 2021 and May 2023 with a diagnosis of fetal anterior abdominal wall and gastrointestinal tract abnormalities. RESULTS: A total of 67 cases were included in our study with a mean maternal age of 26.4 ± 3.1 years and a median gestational week of first assessment at our center of 22 weeks (12-39 weeks). The most common anterior abdominal wall malformations were omphalocele (n=29, 43.3%) and gastroschisis (6 cases, 9.0%), and the most common fetal gastrointestinal tract anomalies were duodenal atresia (n=10, 14.9%), dilated bowel (n=5, 7.4%), and intestinal atresia (n=4, 5.9%). While genetic testing was carried out in 18 cases (27%), chromosomal abnormality was found in 6 (9.0%) cases. Termination of pregnancy was performed in 6 cases (9.0%). Postnatally, surgery was performed in 49 cases (73.1%) with a diagnosis of postpartum omphalocele, duodenal atresia, gastroschisis, intestinal and anal atresia. An uneventful surgical course was recorded for 47 cases that underwent surgery. CONCLUSION: The most common abdominal wall defects are omphalocele and gastroschisis, and the most frequent gastrointestinal anomalies are small bowel abnormalities (duodenal atresia, dilated bowel, intestinal atresia) in our study cohort. These abnormalities might be an isolated anomaly or part of a syndrome or associated with chromosomal abnormalities. The prognosis for infants with gastrointestinal malformation depends on the presence of associated anomalies or karyotype anomalies.

Burden and mortality of congenital gastrointestinal anomalies: insights from a nationwide cohort study.

Improved perioperative care has enhanced survival in children with congenital gastrointestinal conditions and abdominal wall defects (AWD). However, epidemiological and surgical outcomes in developing nations are still scarce. Our aim was to assess the burden and mortality of common congenital gastrointestinal anomalies and AWD in Malaysia, and their influencing factors. Using the Global PaedSurg study protocol with permission, we performed a prospective cohort study on children presenting for the first time between October 2021 and April 2022 with these conditions: Esophageal atresia (EA), congenital diaphragmatic hernia (CDH), intestinal atresia, gastroschisis, exomphalos, anorectal malformation (ARM) and Hirschsprung's disease. We compared mortality and 30-day outcome data across different geographical regions in Malaysia. There were 228 patients with 242 study conditions (EA n = 28, CDH n = 36, intestinal atresia n = 49, gastroschisis n = 12, exomphalos n = 8, ARM n = 77, Hirschsprung's disease n = 32). Our mortality rate was 8.8%; 60% of these were CDH patients. Factors significantly associated with mortality were CDH diagnosis, central venous access requirement, higher American Society of Anesthesiologists (ASA) score, blood transfusion and ventilation requirement. Diagnosis of CDH is the most important predictor for sepsis on arrival and mortality, therefore measures should be taken for early recognition and aggressive management.

Role of MRI in Preoperative and Postoperative Evaluation of Anorectal Malformation

Role of MRI in Preoperative and Postoperative Evaluation of Anorectal Malformation

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

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. 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. 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. 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.

ERN eUROGEN Guidelines on the Management of Anorectal Malformations, Part IV: Organization of Care and Communication between Providers.

Being born with an anorectal malformation (ARM) can have profound and lifelong implications for patients and parents. Organization of care and communication between health care providers is an overlooked area of patient care. The European Reference Network eUROGEN for rare and complex urogenital conditions assembled a panel of experts to address these challenges and develop comprehensive guidelines for the management of ARM. The Dutch Quality Standard for ARM served as the basis for the development of guidelines. 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 seven 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 all available evidence, expert consensus, and the European context. Aspects pertaining to organization of care, patient/parent/health care provider communication, and referral and collaboration between providers caring for ARM patients were assessed. Two new studies were identified. In total, the panel adapted 12 recommendations, adopted 7, and developed 2 de novo. The overall level of newly found evidence was considered low and most recommendations were based on expert opinion. Collaborative care and organization of care are gaining importance in the field of ARM. This guideline gives practical guidance on how to achieve better communication and collaboration between all involved parties, applicable at the European level.

Sexual function and fertility in young female adults surgically treated for anorectal malformations

PurposeThe aim was to investigate sexual function and fertility in female adults operated on for anorectal malformations (ARM).MethodsThis was a cross-sectional questionnaire-based study including female adult patients treated for ARM at our institution between 1994 and 2003. Sexual function in females was assessed using the Profile of Sexual Function (PFSF). Additional questions regarding fertility were answered by the participants. Patient characteristics were retrospectively retrieved from the medical records and descriptive statistics were used for analysis. Sexual function outcomes were compared to a control group from a previously published group of females. Composite outcome analysis was performed using previously published data to determine the potential impact of bowel function and health-related quality of life on sexual function. The ethics review authorities approved the study.ResultsA total of 14 of 30 (46.7%) females responded to the questionnaires and had a mean age of 21.1 years (range 18–26). No association was found between PFSF and age or bowel function (Bowel Function Score), however, a strong correlation was found between PFSF and health-related quality of life (HRQoL) with a Spearman correlation of ρ 0.82 (p = 0.0011). The general satisfaction question was strongly associated with their total PFSF score (ρ = 0.71, p = 0.0092). Except for the “desire” item, the females in this cohort did not have significantly worse sexual function than the control population(p = 0.015). Ten of fourteen (71.4%) females had had their sexual debut at a mean age of 16.3 years and two of these women (20%) have been pregnant. All females had had menarche at a mean age of 12.7 years.ConclusionSexual function in adult females was comparable to healthy controls except for the “desire” item where the cohort reported poorer outcomes. The cohort’s sexual function had a direct association with their reported HRQoL where individuals with worse HRQoL also reported poorer sexual function.Level of evidenceIII

Neurodevelopmental outcomes among children with congenital gastrointestinal anomalies using Korean National Health Insurance claims data.

This study investigated neurodevelopment and risk factors in children surgically treated for congenital gastrointestinal anomalies (CGIA), excluding those with known high-risk factors such as low birth weight or chromosomal anomalies. Data of children born between 2008 and 2015 who underwent surgical treatment for CGIA were retrieved from the Korean National Health Insurance Database. CGIA included esophageal atresia, duodenal atresia, jejunoileal atresia, anorectal malformations, and congenital megacolon. Neurodevelopmental impairment (NDI) was defined as Korean Ages and Stages Questionnaire scores below the determined cut-off or Korean Developmental Screening Test scores < 2 standard deviations at 3 years of age. Children with CGIA had a significantly higher risk of NDI than controls (6.2% vs. 2.7%, p < 0.001). Growth failure was correlated with NDI. Longer durations of oxygen support (adjusted odds ratio [aOR], 1.037; 95% confidence interval [CI], 1.013-1.063), mechanical ventilation (aOR, 1.053; 95% CI, 1.018-1.089), and number of surgeries (aOR, 1.137; 95% CI, 1.016-1.273) were significantly associated with NDI. These findings emphasize that cautious yet proactive neurodevelopmental monitoring is crucial in affected children, ensuring timely intervention and that excessive concern among families is unnecessary.

Mullerian and vaginal anomalies

Purpose of review To provide a comprehensive resource for pediatric surgeons and pediatricians caring for patients with Mullerian and vaginal anomalies, with a focus on recent changes in practice. Recent findings Herein, we provide a foundation for understanding the anatomy, presentation, and work up of Mullerian and vaginal anomalies. We review how to approach management of these anomalies when in isolation or when associated with anorectal malformations. We discuss the evolution of the management of neovaginal discussion with a current emphasis on patient-centered and directed care. Summary Review of current understanding of and approach to Mullerian and vaginal anomalies in children.

X-Linked Intellectual Disability with NEXMIF Gene Mutation and Developmental Delay with GNAO1 Gene Mutation: Case Report

X-linked intellectual disability (XLID) is a genetically heterogeneous disorder. Currently, 162 genes linked to XLID have been found, but the cause of XLID is still unclear. While the GNAO1 gene is crucial for hypotonia, epilepsy, developmental delay, and movement disorders, the NEXMIF gene, also known as KIAA2022, has associations with XLID, autism, and epilepsy. The subject of the study, a 5-year-old girl has lots of congenital defects, including a cleft palate, anal atresia, hypotonia in her lower limbs, and thumb missing. A variety of eye abnormalities, such as scoliosis, finger malformations, and craniofacial dysmorphism. Radiological tests revealed substantial heart problems, bilateral renal hypoplasia, and brain abnormalities. She met milestones more later than her contemporaries, indicating clear developmental deficits. The NEXMIF and GNAO1 genes both include heterozygous frameshift variants that were discovered through genetic research using next-generation sequencing. The complex and varied clinical signs of XLID are shown in this case. The clinical picture is further complicated by the co-occurrence of mutations in the NEXMIF and GNAO1 genes, which emphasizes the need for an approach to offer suitable therapy solutions. Future studies are necessary to understand the complex interactions between these genes and how they affect XLID and related symptoms.

New ultrasound features in diagnosing fetal anal atresia: a multicenter prospective cohort study

This research aimed to assess the validity of ultrasound scans with new features in detecting fetal anal atresia and verify the effectiveness of these new features. Additionally, we aimed at investigating the perinatal incidence of anal atresia. This multicenter prospective study recruited 94,617 normal gravidas and 84 gravidas with anal atresia fetuses. The gold standard for diagnosing perinatal anal atresia is routine neonatal anus examinations. The incidence calculation was based on the results of the gold standard. The validity of our new approach was evaluated via a diagnostic test involving all 94,701 subjects. The effectiveness of our new features was assessed through an ablation study in a randomly established new dataset, with the ratio of anal atresia to non-anal atresia cases of 1:4. The annual perinatal incidence of anal atresia between 2019 and 2023 ranges from 0.57‰ to 1.29‰. Our new method performed great regarding the Youden index, diagnostic odds ratio (DOR), area under the curve (AUC) of the receiver operating characteristic curve (ROCC), AUC of the precision-recall curve (PRC), F1-score, and Cramer’s V. In the ablation study, our new approach surpassed its competitors concerning Youden index, DOR, AUC of the ROCC, and AUC of the PRC. Ultrasound scans show high validity and clinical value in detecting fetal anal atresia. Our new ultrasound features significantly promote the detection of fetal anal atresia.

Outcomes of Management of Anterior Anus in Girls in Glasgow, UK

BackgroundAnterior anus is considered part of the spectrum of anorectal malformations in girls and has been associated with childhood constipation. However, limited literature exists on outcomes and associated malformations. MethodsAll girls <6 months referred to our centre with suspected anterior anus between January 2015 and December 2022 were identified. Data collected included patient demographics, presence of anomalies, operative management, laxative use and continence. Results are described using descriptive statistics and percentages. Results147 girls were referred with suspected anterior anus of which 95 were confirmed to have an anterior anus. Median age of first assessment was 3 (0–13) months. Median follow up was 24 (1–94) months. 21 (22.1 %) had clinical concern of partial absence of normal circumferential anal corrugation. 10 (10.5%) girls underwent examination under anaesthesia; 4 patients underwent anoplasty with covering colostomy. Laxatives were prescribed in 31 (32.6%) girls. Of the 53 patients followed up to age 4 years and older, 51 (96.2%) achieved continence. On renal ultrasonography significant hydroureteronephrosis was detected in one patient. No significant spinal anomalies were detected on imaging. Two patients had ventricular-septal defects were identified. All significant anomalies were in patients with an ectopic anus/ perineal fistula. ConclusionThis represents the largest reported series of girls with anterior anus. The incidence of identified associated malformations was low. Furthermore, laxative use and continence outcomes are similar to the general infant/childhood population. Screening and routine follow-up should be reserved for individual cases where there is clinical concern.

Quality of Life of Children After Completion of Surgical Treatment for Anorectal Malformation: A Single-centre Cross-sectional Study in South-Western Uganda

BackgroundAnorectal malformations (ARMs) range from abnormalities such as imperforate anus to complex forms such as cloaca and are often associated with other anomalies and residual functional stooling problems. The present study aimed to evaluate the quality of life (QoL) of children after surgical treatment for ARMs at Mbarara Regional Referral Hospital (MRRH) in South-Western Uganda. MethodsIn this cross-sectional study, we enrolled children who had completed surgical treatment for ARMs between 2014 and 2021 at MRRH. A 23-item PedsQL 4.0 inventory was used to evaluate health-related QoL in children using a multidimensional parent proxy reporting for children aged 3 years to 7 years and child self-reporting for children aged 8–17 years. Regression analysis was used to determine the association between sociodemographic and clinical variables and QoL. Crude and adjusted coefficients and their corresponding 95% confidence intervals (CI) were calculated. The significance level was set to a p-value <0.05. ResultsA total of 88 participants (F:M ratio = 1.15:1) aged 3 years–18 years with a median age of 4.5 years (IQR 3–7) were enrolled. The median age at diagnosis of ARM and preliminary diverting colostomy was 3 days (range: 2–30 days) and 3 days (range: 2–60 days) respectively. Rectovestibular fistulas, 47 (53.4%), were the most prevalent subtype of ARMs, and 5.7% of children had associated anomalies. Over one-third of the participants (38.6%) had definitive surgery after 3 years of age, and PSARP was the most common procedure. The average PedsQL score was 94 out of a maximum score of 100. The mean physical functioning score was 96.7 in males and 98.9 in females. The overall mean emotional functioning score was 91 ± 2. The mean social functioning score was 92 ± 3.0. The mean school functioning score was 95.7 in males and 98.5 in females. Associated anomalies and reoperation significantly predicted poor QoL. ConclusionThe overall QoL of the participants was good. Increasing years after completion of surgery was significantly associated with good QoL scores in all dormains. Associated anomalies and reoperation were associated with poor QoL, while years after definitive surgery was associated with good QoL. There is a need for increased awareness and utilization of QoL assessments as an outcome measure after definitive surgery for ARM. Level of evidence4. Type of studyCross sectional clinical study.

Routine whole spine magnetic resonance imaging for patients with anorectal malformations.

To evaluate the necessity of performing whole spine magnetic resonance imaging (MRI) as opposed to solely lumbosacral MRI for detecting high-level spinal lesions (in the brain, cervical, or thoracic spine) in patients with anorectal malformations (ARM). This retrospective cohort study included 69 patients treated for ARM at a medical center between January 2011 and January 2022. Before March 2021, lumbosacral MRI was used for patients with ARM. Since March 2021, anomalies in the posterior cranial fossa and whole spine were assessed using routine MRI. Both male (n = 30, 43.4%) and female patients were included in the study. Out of the 69 patients, 19 (27.5%) underwent whole spine MRI, and 50 (72.5%) underwent lumbosacral MRI. In the whole spine group, 4 patients had anomalies beyond the lumbosacral area. In the lumbosacral group, 4 patients subsequently underwent whole spine MRI due to symptoms, with 3 revealing higher-level anomalies.High-level spinal and brain anomalies, although infrequent, are present in patients with ARM. The findings suggest considering routine whole spine MRI in screening ARM patients to avoid missing high-level anomalies.

Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of the Second Case and Phenotypic Assessment.

Casamassima-Morton-Nance syndrome (CMNS) is a rare disorder characterized by spondylocostal dysostosis (SCD), anal atresia, and urogenital anomalies. We describe a fetus with CMNS associated with a limb-body wall defect (LBWD), the second such case in the literature. We compare the phenotypic differences with previously reported cases, including those with segmentation anomalies of the axial skeleton, body wall defects, or absent/abnormal genitalia, revealing the consistent presence of SCD in CMNS. However, as expected, a wide phenotypic spectrum emerges, providing useful observations for fetal/neonatal screening relevant to differential diagnoses. Advanced diagnostic methods using imaging and next-generation skeletal dysplasia multi-gene panels are advisable, as they enable timely, actionable, well-informed decisions for parental counseling, potential elective termination of pregnancy, and prenatal and/or postnatal care. Most reported cases do not mention the recurrence of these usually lethal anomalies.

The long-term post-surgical outcome of intermediate anorectal malformation in our department.

Posterior sagittal anorectoplasty and laparoscopic-assisted anorectal pull-through are preferred for anorectal malformation (ARM) today, while careful pull-through procedures with sacroperineal approach yield excellent outcomes. This study focuses on a pull-through procedure emphasizing continence mechanism preservation and compares outcomes with historical studies with various procedures. Bowel function of patients with intermediate ARM followed up for over 10years post-surgically was assessed. Data collected included ARM type with the Krickenbeck classification, comorbidities, complications, post-surgical examinations, follow-up, and bowel function at the latest clinic visit. The literature review collected original articles including more than 10 post-anorectoplasty cases which were followed for over 10years. Eleven cases were identified, with a median age at anorectoplasty and follow-up length of 6.9months and 14.4years. Two fistula recurrences required surgical treatment. Long-term incontinence and constipation were observed in 9% and 45% of the cohort, respectively. Good rectal angulation and a positive rectoanal inhibitory reflex were confirmed in most cases examined. A literature review identified eight studies with various outcome-measuring instruments. Outcomes of the introduced pull-through procedure were favorable, while the literature review highlights the variation in outcomes of various anorectoplasty. Level IV.

Incidence of associated anomalies in children with anorectal malformation: A 1-year prospective observational study in a low-income setting.

Anorectal malformations (ARMs) consist of a range of anomalies that are often associated with other anomalies The purpose of the study is to assess the incidence of associated congenital anomalies that are seen in patients with ARMs. An observational prospective study was conducted on 162 cases with ARM from February 2019 to January 2020, and data were collected on patient demographics, type of ARM, and associated anomalies using a prestructured questionnaire and analysis done using SPSS (IBM), version 23, software. Relevant statistical analysis was done, and the results are presented in tables and charts. Of 162 cases studied, 70 of them were males and 92 were females with a male-to-female ratio of 0.76:1. The majority of male patients (45%) had rectourethral fistulas, whereas 63% of the females had rectovestibular fistula. While 76 (47%) patients presented with isolated ARM, 86 (53%) had ≥1 associated congenital malformations. Forty-eight (30%) patients presented with a single associated anomaly, whereas 20 (12%) patients had≥3 associated anomalies. The commonest associated anomalies were urologic 26.5% followed by genital (22.8%), cardiac 20.4%, and musculoskeletal 16.6%, and 12.3% of them had vertebral; anorectal; cardiac; tracheoesophageal fistula; renal; limb association. More than half of the children have other associated abnormalities. We found urogenital anomalies to be the most common associated congenital defects. A lower incidence of cardiac and spinal cord anomalies was noted suggesting a need for active workup to be in line with the latest standards of care.

Immunohistochemical evaluation of CD34, CD117, and calretinin for diagnosis of hirschsprung’s disease

IntroductionHirschsprung’s disease (HD) is a neurogenic intestinal disorder attributed to incomplete neural crest cell migration during fetal intestinal development, leading to an aganglionic segment of the colon and functional obstruction. Associated malformations like intestinal atresia, hydronephrosis, and imperforate anus can accompany Hirschsprung’s disease. this study aims to evaluate the efficacy of Calretinin and Cajal cells (CD34 and CD117) immunohistochemical staining in improving HD diagnosis.MethodsThe study involved 70 pediatric patients suspected of Hirschsprung’s disease. Clinical, histopathological, and immunohistochemical analyses were conducted, focusing on calretinin, CD34, and CD117 markers to identify ganglion cells and Cajal cells. Data were statistically analyzed using SPSS software.ResultsIn the examination of the samples, the calretinin marker exhibited a consistent accuracy of 100% in diagnosing Hirschsprung’s disease (with sensitivity and specificity both at 100%). Regarding the markers for Cajal cells in cases of Hirschsprung’s disease, an irregularity in the arrangement of Cajal cells was observed, which was absent in normal cases. These markers also demonstrated a specificity and sensitivity of 100% in diagnosing the disease.ConclusionHirschsprung’s disease remains a complex condition with multifaceted pathophysiological mechanisms. Calretinin immunohistochemical staining offers enhanced diagnostic accuracy, while the debate surrounding ICC distribution underscores the need for advanced diagnostic techniques. Further research is warranted to unravel the intricacies of Hirschsprung’s disease and its associated complications.

Anorectal Malformations (ARM) and associated maternal factors among children at Tikur Anbessa Specialized Hospital and St. Paul’s Hospital Millennium Medical College, Addis Ababa, Ethiopia: An unmatched case-control study

Anorectal Malformations (ARM) and associated maternal factors among children at Tikur Anbessa Specialized Hospital and St. Paul’s Hospital Millennium Medical College, Addis Ababa, Ethiopia: An unmatched case-control study

Letter to the Editor: Congenital Heart Defects in Patients with Anorectal Malformations: A Retrospective Cohort Study of 281 Patients

Letter to the Editor: Congenital Heart Defects in Patients with Anorectal Malformations: A Retrospective Cohort Study of 281 Patients

ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part III: Lifelong Follow-up and Transition of Care

Abstract Introduction Anorectal malformations (ARMs) are complex congenital anomalies of the anorectal region, oftentimes also affecting the genitourinary system. Although successful surgical correction can often be achieved in the neonatal period, many children will experience functional problems in the long term. The European Reference Network for rare and complex urogenital conditions (eUROGEN) assembled a panel of experts to address these challenges and develop comprehensive guidelines for the management of ARM. Methods The Dutch Quality Standard for ARM served as the foundation 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 the current evidence and/or expert consensus. Results Lifelong follow-up, integration, and transition of care were assessed. A total of eight new studies were identified. The panel adapted 18 recommendations, adopted 6, and developed 6 de novo. Overall, the level of evidence was considered low. Conclusion Successful lifelong follow-up and transition of care require a dedicated team of pediatric and adult specialist and an individually tailored patient-centered approach. This guideline summarizes the best available evidence on follow-up of ARM patients and provides guidance for the development of structured transition programs.