Overview
Previously known as the Guthrie test and also known as the ‘heel prick’ test, the newborn blood spot test is performed on days 5-8 of life (ideally day 5). It involves pricking the heel and collecting a few drops of blood to screen for 9 conditions that require early detection and management if present:
- Sickle cell disease – around 270 babies per year
- Cystic fibrosis – around 1 in 2,500 babies
- Congenital hypothyroidism – around 1 in 2000-3000 babies
- Phenylketonuria – around 1 in 12,000 babies
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) – around 1 in 8,000 babies
- Maple syrup urine disease (MSUD) – around 1 in 185,000 worldwide, but incidence increases in certain populations
- Isovaleric acidaemia (IVA)
- Glutaric aciduria type 1 (GA1) – around 1 in 109,000
- Homocystinuria (pyridoxine unresponsive) (HCU) – around 1 in 344,000 worldwide, but incidence is higher in Ireland (1 in 65,000)
Some regions in England also offer screening for severe combined immunodeficiency (SCID) to gauge whether screening for it should be offered to all babies in England. Around 14 babies each year are born with SCID.
