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Is the current threshold level for screening for congenital hypothyroidism too high? An audit of the clinical evaluation, confirmatory diagnostic tests and treatment of infants with increased blood spot thyroid-stimulating hormone concentrations identified on newborn blood spot screening in Wales
  1. R A Pryce1,
  2. J W Gregory2,
  3. J T Warner3,
  4. R John4,
  5. D Bradley4,
  6. C Evans4
  1. 1
    Department of Paediatrics, Royal Gwent Hospital, Newport, Wales
  2. 2
    Department of Child Health, Wales College of Medicine, Cardiff University, Cardiff
  3. 3
    Department of Paediatrics, Children’s Hospital for Wales, Cardiff
  4. 4
    Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff
  1. R A Pryce, Department of Paediatrics, Royal Gwent Hospital, Newport, Wales; bekyp{at}

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The UK Newborn Screening Programme has set standards for the identification, investigation and early management of children with congenital hypothyroidism.1 The standards state that infants with a blood spot thyroid-stimulating hormone (TSH) concentration greater than 20 mU/l are considered to have a positive screening result and referred for investigation by a designated clinician as defined by the British Society for Paediatric Endocrinology and Diabetes. Infants with an initial blood spot TSH concentration between 10 mU/l and 20 mU/l are considered to have a “borderline” result, and the assay is repeated. If the concentration remains greater than 10 mU/l on reassay, a repeat blood sample is collected. If the repeat blood spot result is greater than or equal to 10 mU/l this is …

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  • Competing interests: None.