What is the Newborn Blood Spot Test?

The Newborn Blood Spot Test is a screening test that is carried out at around one week of age. It identifies babies who possibly have rare but serious conditions.

It’s more than likely that your baby will be fine, but for a baby who is found to have one of these conditions then without treatment they could become seriously ill.

What conditions are tested for?

The Newborn Blood Spot Test (formerly called the Guthrie) tests for five conditions, although this may change slightly depending on where you live.

Phenylketonuria (PKU)

In the UK around 1 in 10000 babies born will have PKU. This is an inherited condition and babies who have it cannot process a substance in their food called phenylalanine.

If a baby has this and it is left untreated it can lead to irreversible brain damage. When PKU is detected at an early stage, changes in the diet can be made that allow the baby to grow up healthily.

Congenital Hypothyroidism (CHT)

One in 4000 babies born in the UK is born with CHT. Babies born with CHT do not produce enough of the hormone thyroxine.

Without this they with develop serious mental and physical problems that are permanent.

If CHT is picked up through screening this hormone can be replaced and this allows the baby to lead a normal life.

Sickle Cell Disorder (SCD)

Around 1 in 2500 babies born in the UK have SCD. SCD is an inherited condition which means that the red blood cells in the body change from being round to a sickle shape. These can then get stuck in the small blood vessels in the body causing severe pain, infection and sometimes death.

Early treatment with immunisations and antibiotics along with parent education can mean that the child will live a much healthier life.

Cystic Fibrosis(CF)

1 in 2500 babies in the UK are born with CF. It is a condition that affects the digestion and lungs. Babies with CF do not thrive (grow) well and could suffer with chest infections.

When detected early, treatment can start including a high energy diet, medicines and physiotherapy.

Sadly, children with CF can still become very ill, but treatment means that they can live longer, healthier lives.

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

There may be a screening programme going on in your area for MCADD.

Around 1 in 10000 babies born in the UK have MCADD. These babies have a problem  breaking down fats in their body to convert it to energy. MCADD is an inherited condition.

Early detection allows their diet to be modified meaning they can lead a normal, healthy life.

Screening for MCADD is important as babies who have can become dangerously ill very quickly.

How is the test taken?
At around one week of age, a midwife will take some blood from your baby’s heel. She does this
using a special instrument that will prick the skin. She then takes drops of blood and puts them
on a card, making spots.
You may find that your baby cries but not usually for long. Some babies don’t find it an issue at
all! You can help by making sure that your baby has warm feet as this helps the blood flow
easier. You may find that your baby settles afterwards if you are ready with a feed.

What else do I need to know?

Remember that this is a screening test. If your baby screens positive for any of these conditions then they will need further testing to confirm the diagnosis.

If you haven’t heard anything after your baby is 6 weeks of age then the test was probably normal. You will only be contacted if there is a problem.

It is recommended that you have this screening test, as any problems that are detected can then be dealt with sooner rather than later, and you can then ensure the very best for your child.

Claire Parry RM January 2007