Article Text

Download PDFPDF
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
  1. Govind V S Murthi1,
  2. Thomas McEwan2,
  3. Gregor M Walker3,
  4. Porus Bustani4
  1. 1 Paediatric Surgical Unit, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK
  2. 2 NHS Education for Scotland, Glasgow, UK
  3. 3 Paediatric Surgery, Royal Hospital for Children, Glasgow, UK
  4. 4 NICU, Jessop Wing, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
  1. Correspondence to Mr Govind V S Murthi, Paediatric Surgical Unit, Sheffield Children's Hospital NHS Foundation Trust, Sheffield S10 2TH, UK; govind.murthi{at}nhs.net

Abstract

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.

  • Paediatrics
  • Neonatology

Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

View Full Text

Footnotes

  • Twitter @tom0mcewan

  • Contributors GVSM wrote the initial draft of the manuscript. TM, GMW and PB reviewed the draft manuscript and provided inputs which were incorporated.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.