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.