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)

Further information