Improvements to the newborn bloodspot screening service are required to meet national standards

J Med Screen. 2010;17(3):114-20. doi: 10.1258/jms.2010.010015.

Abstract

Objectives: The UK Newborn Screening Programme has standards to facilitate the early identification and treatment of five specific diseases to prevent lifelong impairment or death. This audit aimed to assess the newborn bloodspot screening programme in an inner London borough and to make recommendations for service improvement.

Methods: Data on babies registered with a general practitioner in the borough between April 2008 and March 2009 were obtained from the borough's health database and the laboratory result systems and compared with national screening standards. Interviews were conducted with the leads of each service providing components of newborn screening.

Results: A total of 292 (8%) out of 3636 babies registered within the audit period had no result on the database (average 1 in 13). Regional reports revealed that over the previous three years the borough, like many others, had consistently failed to achieve the core standards for newborn bloodspot screening. Major areas of concern identified by this audit pertained to the quality of the bloodspot sample, response to requests for repeat samples, timely identification of untested babies and communication of results to parents.

Conclusion: The audit revealed that for the majority of children registered in the borough, screening was successfully carried out. However, gaps in the service meant that with current practice one affected child could be missed every seven years. Recommendations include staff training, frequent data reviews, and providing a coordinating officer to oversee the programme and follow up missing results.

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency
  • Anemia, Sickle Cell / diagnosis
  • Congenital Hypothyroidism / diagnosis
  • Cystic Fibrosis / diagnosis
  • Female
  • Humans
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / diagnosis
  • London
  • Male
  • Neonatal Screening / methods
  • Neonatal Screening / standards*
  • Phenylketonurias / diagnosis

Substances

  • Acyl-CoA Dehydrogenase

Supplementary concepts

  • Medium chain acyl CoA dehydrogenase deficiency