Missed or delayed diagnosis of anorectal malformations: a review of the literature, current training and practice in the UK in relation to detection via the NIPE programme.

Anorectal malformations (ARMs) are a spectrum of congenital anomalies where there is abnormal development of the anus and rectum. With an incidence of 1:5000 live births and affecting both males and females, these anomalies vary in their appearance and presentation, lack features enabling antenatal detection and should be detected at birth by the examining midwife or within 72 hours through the newborn and infant physical examination (NIPE) screening programme. However, it is recognised that the diagnosis of ARMs can be missed or delayed leading to morbidity and mortality. In the UK, despite the existence of the NIPE screening programme and NICE guidelines, published literature shows that nearly a quarter of ARMs are not diagnosed at birth. This review takes a critical look at the frequency of missed/delayed diagnosis of ARMs at birth, the implications of delayed diagnosis, and the possible reasons for this related to education and training of healthcare professionals involved in newborn examination, focusing on the UK national screening programme for NIPE. We propose a strategy for enhancing detection of ARMs in a timely manner through the existing framework of the NIPE screening programme.

The role of stomas in the initial and long-term management of Hirschsprung disease.

AIM: To review the role of stomas in the initial and long-term management of Hirschsprung disease (HD). METHODS: Patients treated for HD at our institution between January 2004 and August 2021 were identified. Data were collected regarding: demographics, indication/bowel location/type of stomas performed and outcomes, pull-through (PT) procedure, and follow-up duration. RESULTS: Ninety-five patients (78 male) were identified including one early unrelated death. Forty-four of 94 (47%) required a stoma before PT procedure. Of these 44, 38 (86%) had ileostomies and the remaining six (14%) colostomies; one ileostomy remains long-term. The commonest indication for initial stomas was washout failure (41%). Ninety-one patients had undergone primary PT or secondary PT with stoma closure at the time of the study. A further new stoma was required after primary PT or three-stage management in 20/91 (22%). The commonest indications were constipation/soiling (25%) and anastomotic leak (20%). Seven out of 20 (35%) were performed within 30 days of a previous procedure and all were closed; three patients required further long-term stomas. Thirteen (65%) required a stoma >30 days, nine remain long-term. Surgical revision of stomas was required in 14/56 (25%) - prolapse and retraction being the commonest indications. Overall, 56/94 (60%) patients required stomas (pre- and/or post-PT) to manage their condition and 13/94 (14%) have a long-term stoma in place. Mean follow-up was 7.8 years (0.5 - 17.6). CONCLUSIONS: Stomas remain an integral part of HD management both initially (47%) and long-term (14%); they carry a considerable associated morbidity. Ileostomy is preferred for initial management. LEVEL OF EVIDENCE: Level III.

Routine use of Circumferential 'Doughnut' Biopsy in Pull through Surgery for Hirschsprung's Disease: Advantages and Limitations.

AIMS: The aim of this study was to review the use of the on-table "doughnut" biopsy for frozen section assessment of bowel in the operative management of Hirschsprung's disease (HD). METHODS: This was a single-center retrospective review of doughnut histopathology reports, operation notes, and slides from 2010 to 2017. Data were assessed for the presence of transition zone (TZ) features and the subsequent decision as to the level of pull-through. RESULTS: Fifty-five patients had a doughnut biopsy taken as part of their intraoperative frozen section histopathology for pull-through for HD during the study period. Forty-eight required a single doughnut, six required a second more proximal doughnut, and one required a third doughnut. Of the 55 first doughnuts, 37 were identified as normal bowel, 17 were TZ, and not defined in the report in one case. Of the 17 TZ doughnuts, 8 were accepted for pull-through and 7 underwent second doughnuts (normal = 4 and TZ = 3). The third doughnut (one case) was normal. TZ was accepted for pull-through in 10/54 (18.5%) patients despite the use of a doughnut. However, TZ was avoided in six (11.1%), where the single-point biopsy was "normal." CONCLUSIONS: The doughnut allows the entire circumference of pull-through level to be assessed, enabling TZ identification that can be missed by single seromuscular biopsies. This allows identification and avoidance of TZ pull-through, although sometimes, it is accepted for other reasons.

A Qualitative Evaluation of the Scientific Program in IAPSCON 2014-2018.

AIM: To evaluate the range and scientific nature of oral presentations in the Scientific Program of IAPSCON from 2014-18. METHODS: The oral presentations in Scientific Program of IAPSCON from 2014 - 18 were tabulated and categorised as per: type of presentation, Paediatric Surgery related clinical subject heading, nature of the content and scientific quality as per Oxford levels of clinical evidence. RESULTS: Most oral presentations were in the form of Short papers. The most common clinical section and clinical condition presented were Urology and Hypospadias respectively. Clinical management followed by operative management represent the majority of the presentations when categorized by the type of content. Certain sections of clinical practice were not represented at all, notably anterior abdominal wall defects and gastro-oesophageal reflux. Most presentations (82.5%) are in Level 4 and 5 as per Oxford levels of clinical evidence, with Levels 1-3 accounting for 5% of presentations. Minimally Invasive Surgery (including robotic) accounted for 8.4% presentations. CONCLUSIONS: This qualitative evaluation shows the variety of oral presentations and areas of greater and lesser interest in the conference meetings. It shows that the scientific quality of the presentations can be improved and highlights certain areas of clinical and scientific research for future consideration.

Complete Laryngo-Tracheo-Oesophageal Cleft masquerading as Oesophageal Atresia and Tracheo-oesophageal Fistula: A Potential Diagnostic and Management Challenge.

Newborn babies presenting with difficulties related to the aerodigestive tract (ADT) are often provisionally diagnosed and managed as having oesophageal atresia +/- tracheo-oesophageal fistula. Continuing difficulties with management and abnormal findings on investigations should lead to the consideration of other congenital anomalies of the ADT, including complete larnygo-tracheo-oesophageal cleft (LTOC). We present two patients who were eventually diagnosed with complete LTOC and care was withdrawn. We discuss the inherent difficulties in reaching this diagnosis and present an algorithm to help manage these rare and challenging situations.

Functional outcome, quality of life, and 'failures' following pull-through surgery for hirschsprung's disease: A review of practice at a single-center.

AIMS: The purpose of this study was to assess bowel function and quality of life (QoL) in patients with Hirschsprung's disease (HD) and identify patients who have 'failed' treatment. METHODS: A review of a single-center HD cohort treated with pull-through surgery from 2004 to 2017 was completed. Bowel function of patients five years and above and QoL of all patients were assessed using validated questionnaires. Patients who 'failed' treatment were defined as above five years with one or more of: a) long-term stoma, b) needing an antegrade continence enema or transanal irrigation, c) severe soiling, or d) severe constipation. Statistical analysis was performed with P < 0.05 deemed significant. Data are given as mean [range]. RESULTS: Seventy-one patients presented with HD within the study period. Mean follow-up was 5.4 years [0.7-13.3]. Of 38 eligible patients, bowel function was assessed in 24 patients (nine had a stoma, five lost to follow-up). The mean incontinence score was 17 [0-28)], and the mean constipation score was 17 [5-25]. Incontinence and constipation scores were worse than healthy controls (P < 0.001 and P = 0.001, respectively) and did not improve with age. Fifty-six patients had QoL assessed with no difference between our cohort (81 [25-100]) and healthy controls (81 [unknown]); (P = 0.85). Thirty-three patients were assessed for 'failure' (bowel function score n = 24; stoma n = 9). Thirty of 33 (91%) children older than five years can be considered to have 'failed' treatment. CONCLUSIONS: Patients have worse bowel function than healthy children, which does not improve with age. QoL is comparable to healthy controls. A significant proportion of patients have poor outcomes and have 'failed' treatment. LEVEL OF EVIDENCE: Level III.

Improving the rigour of VACTERL screening for neonates with anorectal malformations.

PURPOSE: Screening investigations for the vertebral, anorectal, cardiac, tracheo-oesophageal, renal and limb (VACTERL) association form an important part of the management of neonates with anorectal malformations (ARMs). We developed a proforma to define investigations and indications for referral. The aim of the current study was to determine if the proforma could improve screening rigour. METHODS: Four centres performed a 3-year retrospective audit of neonates with ARM. Following introduction of a proforma, the same data were collected prospectively for consecutive neonates over a further 2 years. The appropriate investigation of each component of the VACTERL association and the corresponding referral required for each abnormal result were defined. The proportion of patients undergoing appropriate investigation and referral was compared against these standards. An audit standard of 90% was set for each criteria. RESULTS: Prior to implementation of the proforma, 86 patients were audited, with a further 69 patients after. The audit standard was met in 7 criteria before introduction of the proforma in comparison to 10 criteria afterwards. CONCLUSION: The completeness of VACTERL screening and its documentation improved following introduction of the proforma. Performance remains imperfect. Review of specific criteria (such as definition of vertebral body screening) will help address this.

Congenital absence of the vas deferens and unilateral renal agenesis: implications for patient and family.

BACKGROUND AND AIMS: At routine groin surgery in male paediatric patients occasionally the vas deferens may be absent. This finding usually leads to investigations to establish the status of the contralateral vas deferens and the status of the kidneys. It is not uncommon to find either an ipsilateral renal agenesis or congenital bilateral absence of the vas deferens. The latter finding prompts a test for cystic fibrosis. We report three patients who upon investigation were found to have the rare combination of congenital bilateral absence of the vas deferens and unilateral renal agenesis, and discuss the possible embryological basis, the clinical management and the long-term implications of these findings. PATIENTS AND METHODS: We present three patients who were incidentally found to have absence of the vas deferens whilst undergoing elective groin surgery and following further tests were diagnosed with congenital bilateral absence of the vas deferens and unilateral renal agenesis. The case notes were reviewed, together with the results of radiological investigations, cystic fibrosis screening and the status of the contralateral vas deferens. RESULTS: All three patients were found to have congenital bilateral absence of the vas deferens, unilateral renal agenesis and were not found to have cystic fibrosis. CONCLUSIONS: The combination of congenital bilateral absence of the vas deferens and unilateral renal agenesis, without cystic fibrosis, is rare and not reported previously in the paediatric literature. These findings require appropriate counselling of the parents and child, with regards to the long-term implications of infertility and renal function.

Complete anal membrane in a female: a rare malformation and indication for prone cross-table lateral radiograph.

Magnetic resonance imaging (MRI) of a 27 week gestation female fetus suggested an abnormal rectum. Subsequent examination of the term newborn confirmed an imperforate anus present in the normal position. No meconium was seen on the perineum by 18 hours. A prone cross-table lateral radiograph confirmed that rectal gas was present 3 mm beneath the membrane leading to the diagnosis of complete anal membrane, and an anoplasty rather than a colostomy was performed.

Proximal colonic atresia: is right hemicolectomy inevitable?

PURPOSE: Proximal colonic atresia often results in a marked discrepancy of the atretic ends presenting a technical challenge for restoration of bowel continuity. We review our series of colonic atresia patients with particular reference to the techniques for restoring bowel continuity. METHODS: Case notes of all patients diagnosed with colonic atresia and admitted to our unit between 1997 and 2011 were reviewed. RESULTS: There were 13 patients with a median gestational age of 39 weeks. Location of the atresia was ascending colon (n = 1), hepatic flexure (n = 9), proximal transverse colon (n = 2) and sigmoid colon (n = 1). The primary procedure was: primary anastomosis (n = 1), right hemicolectomy followed by ileo-colic anastomosis (n = 2), right hemicolectomy and stoma formation (n = 3). Six patients underwent stoma formation, of which five subsequently had a right hemicolectomy at a later procedure. In total, 10/12 patients required right hemicolectomy to facilitate restoration of bowel continuity. Median time to full feeds was 11 days (4-46). Median follow up time was 11 months (22 days-5.6 years). CONCLUSION: A temporising stoma does not reduce the discrepancy in the calibre of the atretic ends in proximal colonic atresia. Right hemicolectomy and ileo-colic anastomosis should therefore be considered at the initial surgery.

V-V plasty: a new technique for providing a resilient skin-lined opening for the Mitrofanoff stoma.

Stomal stenosis is a frequent complication after creation of a Mitrofanoff stoma for urinary diversion. We describe a new technique for achieving a skin-lined stoma opening that is easy to construct and decreases the risk of stenosis in the long term.