Guidance

Blood spot

Updated 29 September 2026

Applies to England

This short video explains blood spot screening for newborn babies.

Blood spot

Blood spot screening is recommended by the NHS.

1. Purpose of screening

The purpose of blood spot screening is to find out if your baby has any of a number of rare but serious health conditions.

Early treatment can improve your baby’s health. It can prevent severe disability or even death. If you, the baby’s father, or a family member already have one of these conditions, please tell your healthcare professional straight away.

2. The screening test

When your baby is 5 days old, the healthcare professional will prick your baby’s heel using a special device. They will collect some drops of blood onto a card. Occasionally this may be later than 5 days. The heel prick may be uncomfortable, and your baby may cry. You can help by making sure your baby is warm and comfortable, and by cuddling and feeding them.

Sometimes, a second blood spot sample is required. If this happens, the reason will be explained. It does not necessarily mean there is something wrong with your baby.

If your baby’s screening begins in England but the second sample is taken in another country, they will be screened for the conditions offered in that country. These may differ from those available in England.

3. About the conditions

3.1 Sickle cell disease

About 1 in 2,800 babies born in the UK has a sickle cell disease (SCD). These are serious, inherited blood diseases. They affect haemoglobin, a part of the blood that carries oxygen around the body. Babies who have SCD will need specialist care throughout their lives.

People with SCD can have attacks of severe pain and get serious infections. They can also have anaemia (when their bodies have difficulty carrying oxygen). Babies with SCD can receive early treatment. This includes vaccinations and antibiotics to reduce severe illness and infections.

3.2 Cystic fibrosis

About 1 in 2,500 babies born in the UK has cystic fibrosis (CF). This inherited condition affects the digestion and lungs. Babies with CF may find it hard to gain weight and frequently have chest infections. Babies with CF can be treated early with a high-energy diet, medicines and physiotherapy. Although children with CF may still become very ill, early treatment can help them live longer, healthier lives.

3.3 Congenital hypothyroidism

About 1 in 2,000 babies born in the UK has congenital hypothyroidism (CHT). Babies with CHT do not have enough of the hormone thyroxine. Without thyroxine, babies do not grow properly. They can develop permanent serious physical problems and learning disabilities.

Babies with CHT can be treated early with thyroxine tablets. This will help them to develop as expected.

3.4 Inherited metabolic diseases

It is important to let your healthcare professional know if you have a family history of a metabolic condition. Babies are screened for some inherited metabolic diseases (IMDs).

These are:

• 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 babies to 1 in 300,000 babies.

Babies with these inherited conditions cannot process certain substances in their food. Without treatment, babies with some of these conditions can suddenly become seriously ill. The symptoms of the conditions are different. Some may be life threatening or lead to severe developmental problems.

They can all be treated by a carefully managed diet. This is different for each condition and may include additional medication.

4. In‑service evaluation

An in‑service evaluation (ISE) takes place when the UK National Screening Committee has asked the NHS to collect more UK‑specific evidence before they can decide whether to recommend a new screening programme or a change to an existing screening programme. During ISEs, the NHS in England carefully checks how well screening for certain conditions works in everyday care.

In the newborn blood spot screening programme, an ISE can be used to answer some important questions about a particular rare condition, by carefully offering and evaluating screening in real NHS services. The ISE checks how well the test works in practice, how quickly babies can be referred for care, and whether screening is effective to introduce.

During an ISE, screening for a particular condition(s) may be introduced in a phased way or may only be offered in some areas. If you live in an area taking part in an ISE, you will be given information about the condition being screened for and asked for your consent before your baby can be screened as part of the ISE. Screening for the ISE condition(s) is not available outside the areas taking part in the evaluation.

Your consent is needed for all newborn blood spot screening tests, including the ISE condition(s).

If you live in an area where an ISE is taking place, your midwife or other healthcare professional will explain which condition(s) are included in the ISE and ask for your consent before your baby is screened.

If you choose to be part of an ISE:

• your baby will be screened using the same heel‑prick blood sample already taken for the routine newborn blood spot screening test
• no extra blood sample is needed
• you will get the results of the ISE condition(s) in the same way as the other conditions screened for as part of the routine newborn blood spot programme
• information from your baby’s screening will be used to help the NHS understand how well screening for the particular condition(s) works, and to help decide whether it should be offered more widely in the future
• taking part is your choice and you can ask questions before you decide
• your decision about the ISE condition(s) does not affect screening for the other conditions included in the routine newborn blood spot screening programme

Your midwife or healthcare professional will explain this and answer any questions to help you decide what is right for you and your baby.

What if I do not want to be part of the in-service evaluation?

If you decide not to be part of an ISE:

• your baby will not be screened for the condition(s) that are part of the ISE in your area
• your baby can still have newborn blood spot screening for all the other conditions that are routinely offered
• your baby’s results will be shared with you in the usual way (see Getting my results)

Your decision will not affect the care you or your baby receive in any other way.

What happens to the information collected as part of an in-service evaluation?

If you choose to take part, information from your baby’s screening will be used:

• to help understand how well screening works
• to help the NHS decide how screening could be offered in the future

The information may be collected directly by the NHS, or by a trusted academic or research partner. This usually would not identify your baby. On rare occasions (such as a screen positive result) the information shared may include limited personal identifiable data (PID) such as your baby’s NHS Number.

This information is handled securely and used only for evaluating the screening programme.

Screening for the following conditions is offered in some areas of England, as part of in-service evaluations (ISEs):

4.1 Severe combined immunodeficiency (SCID)

About 1 in 50,000 to 1 in 60,000 babies are born with severe combined immunodeficiency (SCID) in the UK.

SCID is a rare but serious condition that affects a baby’s immune system. Babies with SCID cannot fight infections properly and can become seriously ill very quickly. Without early treatment, infections can be life‑threatening.

Babies with SCID often look well at birth. Screening helps identify babies with SCID before they become unwell, so they can be referred quickly to specialist doctors. Early treatment can be life‑saving.

If you are not sure whether SCID screening is offered in your area as part of the ISE please ask your midwife or maternity healthcare provider

For further information on SCID screening please see  SCID screening: helping you decide if you want this for your baby - GOV.UK

4.2 Spinal muscular atrophy (SMA)

About 1 in 10,000 babies are born with SMA in the UK.

Spinal muscular atrophy (SMA) is a rare genetic condition that affects the nerves that control muscles. This can cause muscle weakness that gets worse over time. SMA can affect movement, breathing and swallowing. The severity varies from person to person. In its most severe forms, SMA can be life‑threatening.

There is no cure for SMA, but there are effective treatments. These treatments work best when started before symptoms develop. Screening can help identify babies with SMA early, so they can be referred quickly to a specialist team to discuss care and treatment options.

• SMA will gradually be offered in the same areas where screening for SCID is offered

• the tests for SMA and SCID are carried out together using the same laboratory test - this means that it is not possible to screen for one condition without screening for the other

• if you do not want screening for one or both conditions, your baby will not be screened for either SMA or SCID

If you are not sure whether SMA screening is offered in your area as part of the ISE, please ask your midwife or healthcare professional.

5. Safety of the test

There are no risks associated with having the newborn blood spot test.

6. Screening is your choice

Newborn blood spot screening is recommended for your baby.

You can choose to have screening for all conditions or some specific conditions only.

You can choose to screen your baby for SCD, CF and CHT individually. If want to screen your baby for IMDs, they will all be tested. Screening for individual IMDs cannot be offered.

If you do not want your baby to be screened for any of the conditions, or have any concerns about the test, please talk to your midwife.

Early screening is best as treatment can be started as soon as possible if needed. If you do not want your baby to be screened, and you later change your mind, your baby can still have the test. Babies can be screened up to 12 months of age for all the conditions, except CF which can only be tested up to 8 weeks of age.

7. Possible results

Results for newborn blood spot screening are reported as ‘condition not suspected’ or ‘condition suspected’.

Most results will show that the conditions screened for are ‘not suspected’.

Some will show that the conditions screened for are ‘suspected’. This does not mean your baby definitely has the condition, but they are more likely to have it.

If the screening results suggest a condition is suspected, a healthcare professional will contact you by phone or in person. They will explain what the result means for you and your baby and tell you if there’s anything you need to do.

Your baby will be referred to a specialist for more tests and to start treatment if needed.

Newborn blood spot screening finds some babies who may be genetic carriers of CF, SCD or another red blood cell condition.

Carriers are healthy and do not have the condition. The only time carriers may experience health problems is in rare situations where their bodies might not get enough oxygen. For example, if they were having surgery under an anaesthetic.

If your baby is a genetic carrier, a healthcare professional will contact you or you will get a letter in the post to explain what this means. Your baby will not need any treatment but may need further tests. Screening does not detect all carriers.

8. Getting my results

If one of the conditions screened for is suspected, you will be contacted by a specialist clinical team. This is to explain the results and offer your baby further testing. Some of these further tests need to be undertaken quickly. You should not ignore any attempts to contact you from the specialist team.

If none of the conditions screened for are suspected, you should receive the results by letter or from your health visitor within 6 weeks.

The results should be recorded in your baby’s personal child health record (‘red book’). Please keep this safe and bring it with you to any further appointments.

9. My baby’s blood spot card and data after screening

After screening, blood spot cards are stored for at least 5 years and may be used:

• to check the result or for other tests recommended by your doctor (if the results could affect the health of your baby, you will be contacted)
• to help improve the screening programme or testing methods for conditions already approved for screening in England (if the results could affect the health of your baby, you will be contacted)
• for research to help improve the health of babies and their families in the UK (this will not identify your baby, and you will not be contacted)

In addition, there is a small chance that researchers may want to invite you or your child to take part in information gathering linked to the newborn blood spot screening programme. Researchers undertaking any additional studies would explain what is being done and you would then be asked if you wish to take part in that study. Please let your midwife know if you do not want to be contacted to discuss taking part in any additional information gathering.

All use of the blood spot cards is governed by the code of practice. Any research will have been approved by an independent research ethics committee.

Find more information and details of support groups on NHS.UK.