Diagnosis Of Anorectal Malformations Research Articles

Development of a Standardized Algorithm for Management of Newly Diagnosed Anorectal Malformations.

Neonates with a new diagnosis of anorectal malformation (ARM) present a unique challenge to the clinical team. ARM is strongly associated with additional midline malformations, such as those observed in the VACTERL sequence, including vertebral, cardiac, and renal malformations. Timely assessment is necessary to identify anomalies requiring intervention and to prevent undue stress and delayed treatment. We utilized a multidisciplinary team to develop an algorithm guiding the midline workup of patients newly diagnosed with ARM. Patients were included if born in or transferred to our neonatal intensive care unit (NICU), or if seen in clinic within one month of life. Complete imaging was defined as an echocardiogram, renal ultrasound, and spinal magnetic resonance imaging or ultrasound within the first month of life. We compared three periods: prior to implementation (2010-2014), adoption period (2015), and delayed implementation (2022); p ≤ 0.05 was considered significant. Rates of complete imaging significantly improved from pre-implementation to delayed implementation (65.2% vs. 50.0% vs. 97.0%, p = 0.0003); the most growth was observed in spinal imaging (71.0% vs. 90.0% vs. 100.0%, p = 0.001). While there were no differences in the rates of identified anomalies, there were fewer missed diagnoses with the algorithm (10.0% vs. 47.6%, p = 0.05). We demonstrate that the implementation of a standardized algorithm can significantly increase appropriate screening for anomalies associated with a new diagnosis of ARM and can decrease delayed diagnosis. Further qualitative studies will help to refine and optimize the algorithm moving forward.

Indications and complications of colostomy in newborn: our experience

Background: The aim of the present study was to evaluate the indications, complications and outcome of colostomy in newborn patients.Methods: This is a descriptive, retrospective study carried out in the Department of Pediatric surgery, Gandhi Medical College Bhopal to evaluate acceptance and outcome of colostomy in newborn over a one year period from March 2018 to March 2019. All newborn with diagnosis of anorectal malformation, Hirshsprungs disease and other emergency conditions underwent transverse loop colostomy by expert and trained pediatric surgeon.Results: Out of 40 patients operated complications of colostomy was seen in 18 (45%) patients. Most common complication was skin excoriation in 08 patients (20%), bleeding from stoma site in 02 (05%) cases. Stoma prolapse occurred in 02 (05%) patients. Wound infection, dehiscence, stomal stenosis and parastomal hernia was seen in one patient each 2 (2.5%). 2 (0.5%) patient died due to multiple congenital anomalies.Conclusions: Colostomy in children is associated with significant morbidity in developing country. To minimize these problems, the pediatric surgeon should focus on the management and early closure of a colostomy.

The effect of multidisciplinary colorectal center development on short-term hospital readmissions for patients with anorectal malformations or Hirschsprung disease

IntroductionHospital readmissions have become a quality metric for both hospital systems and individual surgeons. The medical literature is replete with studies describing readmission rates and factors contributing to readmissions following surgical procedures. Relatively little, however, has been done to define potential solutions to these problems. Over the past decade there has been a movement toward the development of multidisciplinary colorectal centers at high volume children's hospitals. We hypothesized that the development of a colorectal center at our children's hospital decreased readmissions in our colorectal surgery population. Materials and methodsA retrospective review was performed including all patients with the diagnosis of anorectal malformation (ARM) or Hirschsprung disease (HD) at our institution between the years of 2005–2017. Patient level outcomes were compared between the cohort treated prior to (2005–2010) and the cohort treated after the development of the colorectal center (2012–2017). ResultsA total of 354 patients were identified. One hundred seventy-eight patients (113 ARM, 65 HD) were treated prior to and 176 patients (110 ARM, 66 HD) were treated after the development of the colorectal center. Forty-five (25.3%) patients underwent neonatal repair prior to development of the center compared to 15 (8.5%) after. 111 (62.4%) patients underwent colostomy prior to the colorectal center comparted to 95 (54%) after. The rate of readmission within 120 days of discharge in the early group was 63% compared to 52% in those managed in the multidisciplinary colorectal center (p = 0.04). Conversely, the rate of emergency room visits increased from 8.4% to 27.3% (p = 0.01). The decrease in readmission rates was more pronounced in the ARM group, while the HD cohort had similar readmission rates before and after the establishment of the center. Multivariate logistic regression revealed an odds ratio of 0.59 (95% CI 0.37–0.92) for readmission following the development of the multidisciplinary colorectal center. DiscussionThe development of a multidisciplinary colorectal center at our institution was associated with decreased hospital readmissions, but an increase in emergency department resource utilization. These findings suggest improved efficiency in patient care with the implementation of a multispecialty, patient centered approach while also identifying areas of focus for future quality improvement initiatives. Level of EvidenceLevel III, retrospective comparative study.

STUDY OF CASES OF ARM IN RURAL POPULATION

introduction
 Anorectal malformations (ARMs) comprise a spectrum of birth defects in newborn male and female children which include rectum, anal canal, genitalia and urinary tract. ARMs incidence ranging 1:2000-5000 live birth.1,2The spectrum of ARM varies from mild anterior displacement of anus to complex anomalies such as cloacal exstrophy.[4] The main goal of management is correct diagnosis and surgery so as to achieve good anatomic and functional outcome so that a child can lead his or her life as normal as possible.
 MATERIAL AND METHODS
 All children of pediatric age group from 0 to 15 years admitted in surgical wards and/or pediatric wad of Index Medical College, Hospital and Research Centre, Indore with diagnosis of Anorectal Malformations who will undergo all stage of treatment and follow-up. This was prospective and observational study.
 DISCUSSION
 The management of infants with ARM continues to be a challenge to pediatric surgeons, worldwide. For better results, precise anatomical reconstruction and careful preservation of Structure is required. ARM being a complex group of disorders, is not easy to diagnose at primary healthcare level. The social awareness about the disease is low and it also varies with Sex of child, place of living and education of parents.
 CONCLUSION Anorectal malformation is a surgically treatable entity. Early restorative surgery leads to good outcome. Time being the essence, awareness about the condition, hospital delivery and detailed neonatal examination is advisable. In developing countries like India, where illiteracy and poverty are prevalent and where there is neglect of female child, early diagnosis and referral to specialty centres for surgery is always commendable in terms of social acceptance and a sound psyche.

Fecal Incontinence after Posterior Sagittal Anorectoplasty for Anorectal Malformation: A Single-Center Study.

Background Fecal incontinence is one of the worst functional complications of posterior sagittal anorectoplasty for treatment of anorectal malformation. Objectives In this study, we aimed to identify the prevalence of fecal incontinence in patients with the diagnosis of high or low anorectal malformation who underwent three-stage posterior sagittal anorectoplasty surgery in our center. Patients and Methods Children with the diagnosis of anorectal malformation who underwent posterior sagittal anorectoplasty at the Department of Pediatric Surgery of Besat Hospital, Hamadan University of Medical Sciences, Iran, from 2012 to 2016 were enrolled in the study. Parents or guardians were recruited and asked to fill the study questionnaire including the Templeton and Ditesheim Scoring System to assess the status of fecal continence of the patients. Results Thirty-four patients including 10 (29.4%) males were enrolled in the study. High type of anorectal malformation was diagnosed in 23 (67.6%) patients. The overall mean scores of fecal continence were 4.57 ± 0.84 (range 1.5–5) after a mean follow-up time of 50.7 (range 22.5–69.8) months. Good fecal continence was observed in 91.3% of patients with low type compared to 72.8% of patients with high type of anorectal malformation; however, the difference was not significant (P=0.13). Conclusion Posterior sagittal anorectoplasty surgery in patients with anorectal malformation may result in acceptable fecal continence.

Management of Anorectal Malformation: Experience from Ethiopia

Background: Anorectal malformations are among the most common congenital malformation seen in children. There is paucity of data regarding the incidence and treatment outcome of this disease from Ethiopia. Methods: This is a retrospective review of patients treated for ARM at the TASH from March 2010-February 2014. Relevant statistical analysis was done and the results presented in tables and graphs. Results: Six patients (6%) presented at early neonatal age (before the age of 4 days) and 14 (14%) presented between 4 days and one month. A total of 57 associated congenital malformations were diagnosed in 44/99(44%) patients. The two most common type of ARM diagnosed among the female patients were recto- vestibular fistula which occurred in 39/56 (70%) andperineal fistula accounting for 6/56 (11%). ARM with urethral fistula was the commonest diagnosis among the male patients, making up 10/43 (23%). Post-operative outcome showed that 64 (64%) had a very good functional outcome. Conclusions: The diagnosis of anorectal malformation is late. Nearly half of the patients were found to have associated malformationsKey words: Anorectal malformation, Associated malformations, Postero-sagittal anorectoplasty

Voiding Cystourethrography in the Diagnosis of Anorectal Malformations

Introduction In a newborn with an anorectal malformation (ARM), it is vital to determine the anatomy of the underlying defect. After a colostomy has been created, distal colostography (DCG) is currently the chosen modality for the detection of fistulas. The role of voiding cystourethrography (VCU) is unexplored. Aim The aim of this study was to analyze the reproducibility of DCG and VCU in assessing the underlying malformation in ARM, and to evaluate any degree of concordance among them. Materials and Methods A retrospective evaluation was undertaken comparing DCG and VCU findings with definitive surgical findings in children who received both investigations for the initial management of ARM. Results In this study, 26 boys were included. Malformations were classified according to Krickenbeck classification. Four boys with perineal fistula were excluded from the analysis, as none of them needed a colostomy; therefore, comparison between both methods was not possible. VCU identified a rectourethral fistula in 12 cases, a rectovesical fistula in 4 cases, and excluded a fistula in 6 cases. VCU was false negative for a rectovesical fistula in one case. VCU showed a vesicoureteral reflux in 16 patients. Results obtained by VCU were compared with DCG. DCG showed a rectourethral fistula in 11 cases, a rectovesical in 3 cases, and excluded a fistula in 6 cases correctly. DCG was false negative in two cases, a rectoprostatic and a rectovesical fistula. The diagnostic accuracy, measuring the sensitivity was 95% in VCU (range: 76.18-99.88%) and 90% (range: 68.30-98.77%) in colostogram. Conclusion VCU can be as accurate as distal colostogram in the evaluation of male patients with ARM. VCU uses a natural orifice, without the need of a colostomy. VCU can be performed as an initial modality to determine the type of malformation and to decide on the type of early surgical management.

Late Diagnosis of Anorectal Malformations in Children

Anorectal malformations (ARM) include a wide spectrum of congenital defects of the anus, anal canal and rectum, which are often associated with congenital anomalies of other organ systems. They appear with different clinical presentations ranging from simple imperforate anal membrane to very complex defects. They are usually detected immediately after birth or early at neonatal age, but some patients with the milder defects are diagnosed at a later age. Objectives: The aim of this study is to analyze the incidence of patients with ARM diagnosed after neonatal period, clinical features and consequences of delayed diagnosis. Materials and Methods: Since 2010 we performed a combined retrospective and prospective analysis of a total of 76 patients with anorectal malformations, diagnosed and treated at our clinic between 2005 and 2014. We analyzed patients’ age at the time of diagnosis, sex, type of defect, associated anomalies and postoperative functional outcome. Results: 18 patients with ARM (23.68%) were diagnosed beyond the neonatal period. Of them 11 were female (61.11%) and 7 male patients (38.89%). The earliest diagnosed patient was a male of three months of age, while the latest diagnosed patient was a female of 8.5 years of age. All patients had low type anomalies, presented with anal stenosis (16), perineal fistula (1) and vestibular fistula (1). Six patients (33.33%) were also diagnosed with associated anomalies. Conclusion: High incidence of delayed diagnosis of ARM highlights the importance of a careful, comprehensive clinical examination of the perineum of newborns. All patients with severe and chronic constipation must be evaluated for eventually missed diagnosis of low type anorectal malformations.

Treatment of Children with Anorectal Malformations—10-Year Review

Introduction: Anorectal malformations include a wide spectrum of congenital defects of the anus, anal canal and rectum, which are often combined with urogenital tract defects. They are often associated with congenital anomalies of other organ systems such as genitourinary, cardiovascular, digestive, skeletal, etc. Objectives: This study aimed to review the patients with anorectal malformations, diagnosis, different types of associated anomalies and their frequency, modalities of treatment, results of treatment and complications. Materials and Methods: Since 2010, we have performed a combined retrospective and prospective analysis of a total of 76 patients with anorectal malformations which were diagnosed and treated at our clinic between 2005 and 2014. Results: Of 76 patients with anorectal malformations, 48 were male (63.16%) and 28 female (36.84%). Anal stenosis was the commonest type (30.26%) followed by ARM without fistula (25.00%) and rectourethral fistula (18.42%). The most common associated anomalies were urogenital (49.12%), cardiovascular (21.05%), gastrointestinal (15.79%), and bone malformations (5.26%). 34 patients (44.74%) were treated primarily without colostomy. In 40 patients (52.63%) colostomy was performed after birth. PSARP was the procedure of choice in 76.92% of patients. 7 patients (9.21%) died in total. Constipation was present in 52.38% of all patients. Patients older than 3 years of age totally continent were 30.91%. Redo operations were performed in 5 patients (7.94%). Conclusion: Early diagnosis of anorectal malformations is very important. Some malformations such as anal stenosis are sometimes diagnosed beyond the neonatal age. Challenging problem still remains high percentage of children that suffer from fecal incontinence and constipation.

The passage of meconium alone is not a sign of correctly positioned anus

Objective: The aim of this study is to determine the consequences of delayed presentation of anorectal malformations and emphasize the causes of delayed diagnosis of these malformations.Methods: We retrospectively reviewed 54 neonatal patients with a diagnosis of anorectal malformations. Group 1 consisted of 35 patients diagnosed within the first 48 h of life and Group 2 included 19 patients diagnosed after 48 h of life.Results: Obstructive symptoms at the time of diagnosis, overall complications and the mean postoperative hospitalization period in Group 2 were markedly higher than that of Group 1. A comprehensive neonatal examination within the first 48 h of life was performed in 32 (91.4%) patients in Group 1 and 5 (26.3%) of the patients in Group 2 (p < 0.001).Conclusions: The passage of meconium is not the only sign of correctly positioned anus. A careful physical examination and awareness of this anomaly are of great importance in making a timely diagnosis of anorectal malformations.

Outcome of first‐trimester fetal abdominal cysts: cohort study and review of the literature

The aims of this study were to ascertain the outcome of fetuses with an abdominal cyst detected at 11-14 weeks' gestation in our unit and to undertake a review of cases reported in the literature. This was a retrospective study that included all fetuses found to have an abdominal cyst on ultrasound examination at 11-14 weeks, identified over a 14-year period. Pregnancy management and outcome were ascertained from maternal and neonatal records. We also performed a review of the literature using a systematic search strategy, to identify the outcome of similar cases and propose a management algorithm. Fourteen cases were identified during the study period, of which four had associated abnormalities. Of the 10 isolated cases, the cyst had resolved at follow-up scan in eight (80.0%), one fetus died in utero at 15 weeks' gestation and the other case underwent surgery for a choledochal cyst 9 weeks after birth. An additional 19 cases were reported in the literature. In eight fetuses there were associated structural abnormalities, of which four had a diagnosis of anorectal malformation after birth. In two of these four, the cyst resolved in the second trimester. Of those cases with an isolated cyst (n = 11), the cyst resolved in seven (63.6%). The remainder were variably diagnosed as hepatic cyst, ileal duplication or choledochal cyst. Fetal abdominal cysts at 11-14 weeks' gestation are rare. They constitute an isolated finding in the majority of cases and are usually associated with a good perinatal outcome. In view of the reported association with anorectal and other gastrointestinal malformations, perinatal assessment is recommended, even if the cyst resolves during pregnancy.

Management of Ano-Rectal Malformations in a Tertiary Level Children’s Hospital of Nepal

Introduction: Ano-rectal malformation (ARM) comprises a wide spectrum of diseases that involves the distal anus and rectum as well as the urinary and genital tracts. The factors that need to be considered during treatment are the type of anomaly, associated anomalies and patients general condition. The aim of this study is to analyze the types of anorectal malformations and their management in a tertiary level children’s hospital. Materials and Methods: The medical records of patients with the diagnosis of anorectal malformation managed in the hospital during a period of January 2009 to January 2014 were reviewed. Results: There were 187 cases of ARM 126 (67.37%) males and 61 (32.62%) females. High/Intermediate type was 129 (68.98%). Low ARM was 58 (31.01%). In male high type ARM with recto-urethral fistula was seen in 60 (47.61%). ARM with Rectovestibular fistula(RVF) was seen in 40 (65.5%) female. High and intermediate ARMs were managed initially with colostomy and low ARM with primary anoplasty. ARM with rectovestibular fistula in females were managed with Anterior Sagittal Anorectoplasty without colostomy. Common cloaca in female was managed initially with colostomy followed by posterior sagittal ano-recto-vagino-urethroplasty. Colostomy closure was done after adequate size of anus was achieved with anal dilation. Conclusion: The type of ARM in newborn is diagnosed by perineal examination and X-rays. Low type ARM was managed by primary surgery without colostomy. High anomaly and complex defect was treated with stage surgeries. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8190 J. Nepal Paediatr. Soc. 2013;33(3):196-200

Sonographic Depiction of the Fetal Anus and Its Utility in the Diagnosis of Anorectal Malformations

The purpose of this study was to describe the sonographic appearance of the fetal anus and its usefulness in diagnosis of anal atresia. An anomaly scan was performed in 13,150 patients over 8 years. Gestational ages ranged from 16 to 38 weeks. A tangential scan of the fetal perineum was performed. The anus was seen as a hypoechoic ring representing the wall of the anal canal with a central echogenic dot representing the lumen. This appearance was seen posterior to the external genitalia. If there was failure to see this appearance, a coronal scan of the fetal pelvis was done to look for the anal canal in contiguity with the rectum and to confirm its extension up to perineum. Failure to see these two features was considered diagnostic of anal atresia. On the basis of these criteria, anal atresia was diagnosed in 17 fetuses. Sixteen of these fetuses also had other associated anomalies. The appearance of the anus was useful for ruling out anal atresia in 2 fetuses with a dilated colon containing echogenic meconium balls. The anus is visible on a tangential scan of the fetal perineum. It can be seen routinely during an anomaly scan to diagnose or rule out anal atresia.

Comment on Turowski et al.: delayed diagnosis of imperforate anus: an unacceptable morbidity

Turowski et al. provide additional evidence that delayed diagnosis of Anorectal Malformations (ARM) appears to be a common problem, occurring in 21% of their patients, with 9.5% presenting with signs of sepsis and at least one patient suffering due to a high sigmoid perforation [1]. Sadly, delayed diagnosis of ARM has become increasingly familiar to surgeons, as evidenced by the number of recent publications on this topic in the literature [2–4]. In our series, conducted over two separate periods between 2001 and 2009, we identified that the rate of diagnostic delay had risen from 9 to 32% over the 9 year interval [2]. As Turoswki et al. correctly state, such delays not only have an adverse impact of the infant and their family, but also potentially limit the initial options for surgical repair [1, 2]. Clearly, the cornerstone to timely diagnosis of an ARM continues to be a comprehensive neonatal examination performed by a paediatrician or paediatric trainee with sufficient experience [2–6]. Turwoski et al. reiterate current guidelines that neonatal examination of all newborns should occur within the first 48 h of life. Alas, their own data, together with other reports in the literature throughout the world, suggest that these guidelines are either insufficient or ineffective in ensuring prompt diagnosis of neonates with an ARM [2–6]. Whilst increasing the awareness among paediatric medical colleagues of the challenges and complications, these children face as a result of delayed ARM diagnosis may be an important first step, additional training to adequately diagnose ARMs, or changes to current guidelines to more explicitly rule out ARMs as suggested in our recent publication may be required [2]. Truowski et al. also speculate that a higher incidence of associated anomalies may promote earlier diagnosis of the ARM [1]. In our series, as well as that by Lindley et al., direct comparison of the presence of associated anomalies in patients with delayed versus timely diagnosis of their ARM failed to confirm this hypothesis [2, 3]. In fact, we found that the only significant predictor of delayed diagnosis of ARM was a failure to receive a comprehensive neonatal examination within 48 h, reiterating that timely diagnosis of ARM is best achieved by adequate clinical examination. Finally, although Turowski et al. comment on additional morbidity, it is important to recognise that a delay in the diagnosis of ARM may also result in mortality [2–4, 7, 8]. Whilst it is encouraging that delayed diagnosis of ARM is now being increasingly recognised in the literature as an important problem, it would also appear that current guidelines and practices remain insufficient to prevent its occurrence [1–4].

Delays in the diagnosis of anorectal malformations are common and significantly increase serious early complications

To clarify the extent of delayed diagnosis of anorectal malformations and the consequences of delaying this diagnosis. We performed a retrospective case review of all neonatal admissions with an anorectal malformation to a tertiary paediatric surgery unit. A delayed diagnosis was considered to be one made 24 h or more after birth. 75 patients were included in the study group: 31 (42%) had a delay in the diagnosis; 44 (58%) had no delay in the diagnosis. The time of diagnosis where a delay had occurred ranged from 2-16 (median 2) d. A delay in diagnosis could not be accounted for by differences in age, sex, birthweight, gestational age, the severity or visibility of the lesion, the need for neonatal special or intensive care, or the presence of other anomalies. There were significantly more complications (including one death) amongst the group of children who had a delay in the diagnosis of an anorectal malformation. There was no significant difference in long-term functional outcome. Delays in the diagnosis of anorectal malformations are much more common than previously thought. A delay in diagnosis significantly increases the risk of serious early complications and death.

Delays in the diagnosis of anorectal malformations are common and significantly increase serious early complications

Abstract Aim: To clarify the extent of delayed diagnosis of anorectal malformations and the consequences of delaying this diagnosis. Methods: We performed a retrospective case review of all neonatal admissions with an anorectal malformation to a tertiary paediatric surgery unit. A delayed diagnosis was considered to be one made 24 h or more after birth. Results: 75 patients were included in the study group: 31 (42%) had a delay in the diagnosis; 44 (58%) had no delay in the diagnosis. The time of diagnosis where a delay had occurred ranged from 2–16 (median 2) d. A delay in diagnosis could not be accounted for by differences in age, sex, birthweight, gestational age, the severity or visibility of the lesion, the need for neonatal special or intensive care, or the presence of other anomalies. There were significantly more complications (including one death) amongst the group of children who had a delay in the diagnosis of an anorectal malformation. There was no significant difference in long‐term functional outcome. Conclusion: Delays in the diagnosis of anorectal malformations are much more common than previously thought. A delay in diagnosis significantly increases the risk of serious early complications and death.

Significance of hypertrophied genital folds in the diagnosis of anorectal malformations

Significance of hypertrophied genital folds in the diagnosis of anorectal malformations

Single stage Anterior Sagittal Anorectoplasty (ASARP) for Anorectal Malformations with Vestibular Fistula and Perineal Ectopic Anus in Females: A New Approach

Introduction: Despite a better understanding of the embryology, anatomy of anorectal malformations and of the physiology of continence, the management of children born with imperforate anus continues to be a surgical challenge and is still fraught with numerous complications and often leads to less than perfect qualitative results. Pediatric patients with recto-vestibular fistula have good prognoses in terms of bowel function when properly treated. Aim &amp; Objective: The study was designed to assess the surgical morbidity of single stage Anterior Sagittal Anorectoplasty (ASARP). Methodology: This prospective study was carried for a period of 26 months. It included a total of 48 female patients (aged 0 - 14 years) with diagnosis of Anorectal Malformations (ARM) with vestibular fistula or perineal ectopic anus. In ASARP, Patient in lithotomy position, the anterior portion of sphincter muscles were cut through a midline perineal skin incision, rectum was separated from the vagina &amp; then rectum was pulled through the center of these muscles. The perineal body was reconstructed and the normal appearance of perineum was achieved. Results: Short-term surgical outcome was satisfactory in all cases. No one needed colostomy. Conclusion: Single-stage ASARP is a good approach in experience hands for ARM with vestibular fistula and perineal ectopic anus in females and thereby complications and time involved in staged procedures including colostomy can be avoided. Key words: Anterior sagittal anorectoplasty, anorectal malformations, perineal ectopic anus, vestibular fistula. DOI: 10.3126/jnps.v30i1.2458 Journal of Nepal Paediatric Society Vol.30(1) 2010 37-43