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
  2. Positive screen for cystic fibrosis carrier: description in brief
  3. Repeat blood spot test for cystic fibrosis: information sheet
  4. Notification of cystic fibrosis (CF) diagnosis not identified through screening
  5. Cystic fibrosis carrier follow up form
  6. Equipment specification: cystic fibrosis and congenital hypothyroidism screening
  7. Clinical referral: national standard protocol for cystic fibrosis
  8. Cystic fibrosis presumed follow up form
  9. Cystic fibrosis inconclusive test follow up form
  10. Cystic fibrosis: screening laboratory handbook
  11. Cystic fibrosis: presumed positive template letter
  12. Cystic fibrosis: probable carrier template letter
  13. Cystic fibrosis: screening not complete template letter

Failsafe

Glutaric aciduria type 1 (GA1)

  1. GA1 confirmed diagnosis: description in brief
  2. GA1 suspected: description in brief

Homocystinuria (HCU)

  1. HCU suspected: description in brief
  2. HCU confirmed diagnosis: description in brief

Inherited metabolic diseases (IMDs)

Isovaleric acidaemia (IVA)

  1. IVA mild variant confirmed: description in brief
  2. IVA confirmed diagnosis: description in brief
  3. IVA is suspected: description in brief

Maple syrup urine disease (MSUD)

  1. MSUD confirmed diagnosis: description in brief
  2. MSUD suspected: description in brief

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

  1. MCADD confirmed diagnosis: description in brief
  2. MCADD suspected: description in brief
  3. Family history of MCADD: information sheet
  4. MCADD: dietitian management letter

Phenylketonuria (PKU)

  1. PKU suspected: description in brief
  2. PKU confirmed diagnosis: description in brief

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.