Pregnancy Guide
NHS Choices

Newborn blood spot test

Every baby is offered newborn blood spot screening, also known as the heel prick test, ideally when they are five days old.

Newborn blood spot screening involves taking a blood sample to find out if your baby has one of nine rare but serious health conditions.

Most babies screened won't have any of these conditions but, for the few who do, the benefits of screening are enormous.  Early treatment can improve their health, and prevent severe diability or even death.

What does the blood spot test involve?

When your baby is five days old, a health professional will prick their heel using a special device and collect four drops of blood on a special card.  You can minimise the distress to your baby by cuddling and feeding them, and making sure they are warm and comfortable.

Occasionally, the sample may need to be taken when your baby is six, seven or eight days old.

Sometimes a second blood spot sample is needed.  The reason for this will be explained to you.  It doesn't necessarily mean there is somwthing wrong with your baby.

The test doesn't carry any known risks for your baby.

Which conditions is the blood spot test for?

The blood spot test screens for the following nine rare but serious conditions.  If you, your partner or a family member already has one of these conditions (or family history of it), please tell your health professional straight away.

Sickle cell disease

About 1 in 2,000 babies born in the UK has sickle cell disease.  This is a serious inherited blood disease.  Sickle cell disease affects heamoglobin, the iron-rich protein in ref blood cells that carries oxygen around the body.  Babies who have this condirion will need specialist care throughout their lives.

People with sickle cell disease can have attacks of severe pain and get serious, life-threatening infections.  They are usually anaemic  because their blood cells have difficulty carrying oxygen.

The blood spot screening test means that babies with sickle cell disease can receive early treatment to help them live healthier lives. This may include vaccinations and antibiotics to prevent serious illnesses.  Pregnant women are also routinely tested for sickle cell disease early in pregnancy.

Read more about sickle cell disease.

Cystic fibrosis

About 1 in 2,500 babies born in the UK has cystic fibrosis.  This inherited condition affects the digestions and lungs.  Babies with cystic fibrosis may not gain weight well and frequently have chest infections.

Babies with the condition can be treated early with a high-energy diet, medicines and physiotherapy.  Although children with cystic fibrisus may still become very ill, early treatment can help them live longer healthier lives.

Read more about cystic fibrosis, or download a leaflet for parents whose baby has suspected cystic fibrosis.

Congenital hypothyroidism

About 1 in 3,000 babies born in the UK has congenital hypothyroidism.  Babies with congenital hypothyroidism do not have enough of the hormone thyroxine.  Without thyroxinw, babies do not grow properly and can develop learning disabilities.  Babies who have the condition can be treated early with thyroxine tablets, and this allows them to develop normally.

See more information about congenital hypothyroidism (CHT).

Inherited metabolic diseases

It is important to let your health professional know id you have a family history of a metabolic disease (a disease that affects your metabolism).

Babies are screened for six inherited metabolic diseases. These are:

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

Without treatment, babies with inherited metabolic diseases can become suddenly and seriously ill.  The diseases all have different symptoms.  Depending on which one affects your baby, the condirion may be life-threatening or cause severe developmental problems.

They can all be treated will a carefully managed diet and, in some cases, medicines as well.

What are amino acids?

Out bodies break down protein in foods like meat and fish into amino acids (the building blocks of protein).  Any amino acids that aren't needed are usually broken down and removed from the body.

Babies with the inherited metabolic diseases that are screened for are unable to break down one or more amino acids.  When levels of these amino acids get very high, they are harmful.

Does my baby have to have the blood spot test?

It's not compulsory, but it's recommended because it could save your baby's life.

You can choose to have screening for sickle cell disease, cystic fibrosis or congenital hypothyroidism individually, but you can only choose to have screening for all six inherited metabolic diseases or none at all. If you don't want your baby to be screened for any of these conditions, discuss it with your midwife.

You should be given information about the blood spot test and the diseases it screens for in advance so you can make an informed decision for your baby.

If you change your mind, babies can be screened up to the age of 12 months for all the conditions except cystic fibrosis.  Cystic fibrosis can only be screened for up to eight weeks of age.

If you have any concerns about the tests, speak to your midwife, health visitor or GP.

When will we get the results?

You should receive the results either by letter or from a health professional by the time your baby is six to eight weeks old.

The results should be recorded in your baby's personal child health record (red book).  It's important to keep this safe and take it with you to all your baby's appointments.

If you have not received your baby's results, speak to your health visitor or GP.

You will be contacted sooner if your baby screens positive.  This means they're more likely ro have one of the conditions tested for:

  • If your baby is thought to have congenital hypothyroidism (CHT) or an inherited metabolic disease, you will be contacted the day the result is available, or the next working day, and given an appointment to see a specialist.
  • If your baby is thought to have cystic fibrosis, you will be contacted before they are four weeks old.
  • If your baby is thought to have sickle cell disease, you will be contacted before they are six weeks old.

Screening for cystic fibrosis finds osme babies who may be genetic carriers of the condition.  These babies may need further testing.

Screening for sickle cell disease also finds babies who are carriers of this or other red blood cell diseases.  Carriers are healthy, although they can experience priblems in situations where their bodies aren't getting mych oxygen - for example, if they are having and anaesthetic.

Parents of babies who are found to be carriers should be told by the time they are sick to eight weeks old.

What do the results mean?

Most babies will have a normal result, which means it's unlikely that they have any of the conditions.

A small number of babies will screen positive for one of the conditions. This doesn't mean they have the condition, but they are more likely to have it. They will be referred to a specialist for further tests.

It's important to know that screening is not 100% certain. A baby with a negative screening result may later turn out to have the disease screened for. This is known as a false negative. Babies with a positive result sometimes turn out not to have the disease – what's known as a false positive.

Occasionally, other medical conditions are picked up by blood spot test screening. For example, babies with beta thalassaemia major (a serious blood disease) will usually be detected. These babies will also need to be referred for early treatment.

Last Updated: 08/11/2017 13:24:31