What is the newborn blood spot test?

When your baby is about five days old, the midwife will offer you a screening test called the newborn blood spot screen (sometimes known as a heel prick test).

This is recommended as it screens for nine rare but serious health conditions:

Sickle cell disease (SCD)

A serious inherited blood disease which about 1 in 2,000 babies born in the UK suffer from.

Cystic fibrosis (CF)

1 in 2,500 babies born in the UK suffer from CF, which affects the lungs and digestive system.

Congenital hypothyroidism (CHT)

1 in 3,000 babies born in the UK suffer with (CHT), which means that they don’t have enough of the hormone thyroxine.

The blood spot screen also screens for six inherited metabolic diseases:

  • Phenylketonuria (PKU)
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
  • Maple syrup urine disease (MSUD)
  • Isovaleric academia (IVA)
  • Glutaric aciduria type 1 (GA1)
  • Homocystinuria (pyridoxine unresponsive) HCU

These inherited conditions need to be identified and treated treated quickly as they can be life threatening or, if left untreated, can lead to severe developmental problems.

These conditions, once identified, can all be treated in a variety of ways. From medication to a carefully managed diet or physiotherapy, the treatment will be different in each case.

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.

How is the test done?

The midwife will take a small amount of your baby’s blood and put it onto a card which is sent to the laboratory for testing.

They will use a small device to prick your baby’s heel to get the blood. This is uncomfortable and can make your baby cry for a moment, so they may need a cuddle or a feed afterwards to reassure them.

The test is normally done in the first couple of days after birth, however occasionally this may be completed later than five days.

Sometimes the test may need to be repeated, but the midwife will explain to you if that is the case. A specialist blood spot public health nurse (health visitor) can do this if your baby is over 28 days old.

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).