Collection

Newborn blood spot screening programme: supporting publications

These leaflets explain the rare but serious diseases covered by the NHS newborn blood spot (NBS) screening programme.

The NHS newborn blood spot (NBS) screening programme helps identify several rare but serious diseases with a small blood sample, also called a heel prick test.

These diseases include the rare inherited metabolic diseases (IMD) introduced in January 2015.

Healthcare professionals and parents can refer to these leaflets to learn about the diseases and to discuss a baby’s test results.

Blood spot screening information

Congenital hypothyroidism (CHT)

Cystic fibrosis (CF)

  1. Cystic fibrosis suspected: description in brief

    • Promotional material
  2. Positive screen for cystic fibrosis carrier: description in brief

    • Promotional material
  3. Repeat blood spot test for cystic fibrosis: information sheet

    • Promotional material
  4. Notification of cystic fibrosis (CF) diagnosis not identified through screening

    • Form
  5. Cystic fibrosis carrier follow up form

    • Form
  6. Equipment specification: cystic fibrosis and congenital hypothyroidism screening

    • Guidance
  7. Clinical referral: national standard protocol for cystic fibrosis

    • Guidance
  8. Cystic fibrosis presumed follow up form

    • Form
  9. Cystic fibrosis inconclusive test follow up form

    • Form
  10. Cystic fibrosis: screening laboratory handbook

    • Guidance
  11. Cystic fibrosis: presumed positive template letter

    • Correspondence
  12. Cystic fibrosis: probable carrier template letter

    • Correspondence
  13. Cystic fibrosis: screening not complete template letter

    • Correspondence

Failsafe

Glutaric aciduria type 1 (GA1)

  1. GA1 confirmed diagnosis: description in brief

    • Promotional material
  2. GA1 suspected: description in brief

    • Promotional material

Homocystinuria (HCU)

  1. HCU suspected: description in brief

    • Promotional material
  2. HCU confirmed diagnosis: description in brief

    • Promotional material

Inherited metabolic diseases (IMDs)

Isovaleric acidaemia (IVA)

  1. IVA mild variant confirmed: description in brief

    • Promotional material
  2. IVA confirmed diagnosis: description in brief

    • Promotional material
  3. IVA is suspected: description in brief

    • Promotional material

Maple syrup urine disease (MSUD)

  1. MSUD confirmed diagnosis: description in brief

    • Promotional material
  2. MSUD suspected: description in brief

    • Promotional material

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

  1. MCADD confirmed diagnosis: description in brief

    • Promotional material
  2. MCADD suspected: description in brief

    • Promotional material
  3. Family history of MCADD: information sheet

    • Promotional material
  4. MCADD: dietitian management letter

    • Guidance

Phenylketonuria (PKU)

  1. PKU suspected: description in brief

    • Promotional material
  2. PKU confirmed diagnosis: description in brief

    • Promotional material

Sickle cell disease

Published 1 July 2012
Last updated 5 December 2017 + show all updates
  1. Added 'sickle cell disease: positive result referral template letter' to document collection.
  2. Added failsafe publications.
  3. Added PKU not suspected, other disorder follow up for PKU team letter template.
  4. First published.