CONGRESS 2023 - The role of a Regional Newborn Screening laboratory

Last updated: 21st September 2023

Newborn screening (NBS) is an essential public health strategy aimed at identifying newborn babies that are affected by certain genetic, metabolic and infectious conditions. NBS enables the early detection and management of several congenital disorders, which if left untreated, may lead to mental retardation and/or death. Early diagnosis and instigation of treatment, along with appropriate long-term care help ensure normal growth and development of the affected individual. The Sheffield Regional NBS Laboratory is one of the largest newborn screening laboratories in the UK testing around 65,000 newborn bloodspot samples per year and has been an integral part of routine newborn care for the region of South Yorkshire, Lincolnshire and East Midlands. Newborn screening in the United Kingdom now includes screening for 10 conditions including multiple metabolic, haemoglobinopathies and only recently severe combined immunodeficiency - all detectable though multiplex laboratory procedures. This presentation will briefly review the implementation of newborn screening in the region, including a brief history and justification for newborn screening, laboratory detection and diagnosis of the screening condition, the referral pathway/notification to a regional consultant paediatrician for initiation of treatment of the condition/follow up testing and conclude with a case study.

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27th September 2023
Venue: The International Convention Centre (ICC), Birmingham
Learning outcomes

Delegates attending this presentation will:

  • Gain knowledge on the history of Newborn Screening (NBS)
  • Understand the justification for including conditions/disorders on the NBS programme
  • Describe the disorders detected by NBS and understand the referral pathway(s)