What is the new-born 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.

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)

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 new-born 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).