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)


Glutaric aciduria type 1 (GA1)

Homocystinuria (HCU)

Inherited metabolic diseases (IMDs)

Isovaleric acidaemia (IVA)

Maple syrup urine disease (MSUD)

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

Phenylketonuria (PKU)

Sickle cell disease

Published 1 July 2012
Last updated 27 March 2020 + show all updates
  1. Added 'Congenital hypothyroidism: initial clinical referral guidelines'.

  2. Added 'sickle cell disease: positive result referral template letter' to document collection.

  3. Added failsafe publications.

  4. Added PKU not suspected, other disorder follow up for PKU team letter template.

  5. First published.