Population screening programmes – 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.

Congenital hypothyroidism (CHT)

  1. Congenital hypothyroidism (CHT) suspected: description in brief

    • Promotional material
  2. Congenital hypothyroidism (CHT) confirmed: description in brief

    • Promotional material
  3. Congenital hypothyroidism: screening laboratory handbook

    • Guidance

Congenital hypothyroidism (CHT) letter templates

  1. Congenital hypothyroidism (CHT) suspected: letter template

    • Form

Cystic fibrosis (CF) letter templates

  1. Cystic fibrosis: presumed positive template letter

    • Correspondence
  2. Cystic fibrosis: probable carrier template letter

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

    • Correspondence

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

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: 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
  5. MCADD: specialist notification letter templates

    • Correspondence

Phenylketonuria (PKU)

  1. PKU suspected: description in brief

    • Promotional material