What is the newborn blood spot test?

All babies in England are offered a blood spot test which is done when they’re around 5 days old to see if they have one of nine very rare conditions. 

Most babies don’t have the conditions, but for those that do, finding them early helps us to make sure they get the right treatment early and improve their health.

  • Sickle cell disease. About 1 in 2,000 babies born in the UK has sickle cell disease, a serious inherited blood disease.
  • Cystic fibrosis. About 1 in 2,500 babies born in the UK has cystic fibrosis, an inherited condition affecting the digestion and lungs.
  • Congenital hypothyroidism. About 1 in 3,000 babies born in the UK has congenital hypothyroidism, where the baby doesn't have enough of the hormone thyroxine.
  • Spinal muscular atrophy (SMA). About 1 in 14,000 babies born in the UK has spinal muscular atrophy. SMA is a rare genetic condition that can cause muscle weakness that gets worse over time. You may be offered a test for SMA as part of the newborn blood spot test, but it is currently only available in some parts of England. It is being rolled out across different areas of Derbyshire and neighbouring county hospitals over the next year (2027)
  • Severe combined immunodeficiency (SCID): About 1 in 40,000 babies born in the UK has severe combined immunodeficiency. SCID is a group of rare, inherited disorders that affect the immune system. Not all areas are offering the screening; your midwife will let you know if SCID screening is offered in your area. Parents and carers who are offered screening for SCID can refer to this information on helping you decide if you want this for your baby.

Babies are also screened for six inherited metabolic diseases 

  • 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)
  • Hereditary tyrosinaemia type 1 (HT1)

About 1 in 10,000 babies born in the UK has PKU or MCADD. The other conditions are rarer, occurring in 1 in 100,000 to 150,000 babies.

As parents, if either of you have a family history of a metabolic condition, it’s important to let a health professional know about this as early as possible.

  • The midwife will use a small device to prick your baby’s heel, take a small amount of blood and put it onto a card which is sent to the laboratory for testing.
  • Your baby will most likely find this uncomfortable and cry for a short time, giving a cuddle or a feed straight afterwards will help to reassure them.
  • Occasionally the test is done later than 5 days and it may need to be repeated but your midwife or health visitor will explain why this is being done.
  • Babies can be screened for all of these conditions up to 12 months of age (except for cystic fibrosis (CF) which is up to eight weeks).
  • If you move into the UK from another country, you will be offered this test and referred to one of our local hospitals to have the test taken.
  • Having the newborn blood spot screen may be the first decision you make for your baby, and it’s a really important one that could save their life.
  • If you don’t want your baby screened, you will need to discuss this with a health professional. Your midwife or health visitor is also on hand to answer any questions you might have about this test.

You’ll receive a letter in the post to tell you of your baby’s results and your health visitor will check at your baby’s 6-8 week review and record it in your baby’s personal child health record (their red book).