All babies in England are offered screening for:

  • Sickle cell disease (SCD)
  • Cystic fibrosis (CF)
  • Congenital hypothyroidism (CHT)
  • Inherited metabolic diseases (IMDs):
    • Phenylketonuria (PKU)
    • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
    • Maple syrup urine disease (MSUD)
    • Isovaleric acidaemia (IVA)
    • Glutaric aciduria type 1 (GA1)
    • Homocystinuria (pyridoxine unresponsive) (HCU)

Websites

NHS website - Newborn blood spot screening

The NHS website is an online health information service.

It includes full details about this test. 

NHS website - Newborn blood spot screening

Expanded Newborn Screening

This website provides information for parents and professionals on the newborn screening process, the rare conditions which are being tested.

Expanded Newborn Screening website

Leaflets