Newborn screening blood spot

Overview

The newborn screening blood spot test is a routine test done shortly after birth. It involves taking a small sample of blood from your baby’s heel to check for rare but serious health conditions. Finding these conditions early means your baby can get the right care and treatment as soon as possible.

Yes, this test is offered to all newborns in the UK as part of routine care. Over 99% of parents choose to have it done.

The test is for all newborn babies. It doesn't matter if your baby seems healthy – some conditions have no visible signs at birth but can cause serious problems if not found early.

Symptoms

Common symptoms

• Most babies with the conditions screened for do not have any symptoms at birth. That’s why the test is so important – it finds these conditions before symptoms start.

Symptoms in children

• If a condition is not detected, symptoms may appear in the first weeks or months of life. For example, with phenylketonuria (PKU), a baby may develop developmental delay or seizures.
• Babies with sickle cell disease may later show signs of pain, fatigue, or infections.

Symptoms in older adults

• This screening test is only for newborns. Older adults are not affected.

Causes

Main causes

• The conditions tested for are inherited – meaning they are passed on from parents to baby through genes. Most parents do not know they carry the gene for the condition.

Risk factors

• Some conditions are more common in certain ethnic groups. For example, sickle cell disease is more common in people of African, Caribbean, or Mediterranean ancestry.

When to see a doctor

See a doctor urgently if:

• If your baby’s screening result is 'positive' – meaning there is a higher chance of a condition – you will be contacted urgently to arrange further tests. Do not wait; follow the advice given.

Book a routine appointment if:

• Make sure your baby has the newborn screening blood spot test at the right time (usually 5 days old). Ask your midwife or health visitor if you have any questions.

Diagnosis

The newborn screening blood spot test is the first step. If the result suggests a condition, your baby will need more specific tests to confirm the diagnosis.

Tests that may be done

• Blood spot test: a small sample of blood from your baby’s heel is sent to a lab for analysis.
• If a condition is suspected, follow-up tests may include blood tests, urine tests, or genetic testing.

What to expect at your appointment

The blood spot test is quick and usually done while your baby is calm, often during a feed. It may sting for a moment, but most babies settle quickly. You can hold and comfort your baby during the test. Results are usually available within 2–4 weeks.

Treatment

If a condition is found, treatment starts as soon as possible. The exact treatment depends on the condition found, but it often includes special diets, medications, or monitoring. Early treatment can prevent serious health problems and help your baby grow and develop normally.

Self-care at home

• Follow any dietary advice given by your healthcare team – for example, special formula or avoiding certain foods.
• Keep all follow-up appointments and tests.
• Learn the emergency signs for your baby’s specific condition and know what to do.

Medical treatments

Treatment for conditions found through newborn screening may include special diets (such as a low-protein diet for PKU), vitamin supplements, antibiotics to prevent infections (for sickle cell disease), or enzyme replacement therapy. The exact medicines and doses will be prescribed by your baby’s specialist doctor.

When is surgery considered?

Surgery is generally not needed for the conditions screened in the newborn blood spot test. However, some conditions, like cystic fibrosis, may later require procedures such as physiotherapy or, in rare cases, lung transplantation – but this is many years later.

Living with this condition

If your baby is diagnosed with a condition, your healthcare team will give you a plan for daily care. This may include giving special feeds, medicines, or checking for changes in your baby’s health. Most families adjust well, and support is available.

Lifestyle tips

• Learn as much as you can about your baby’s condition.
• Build a good relationship with your healthcare team.
• Connect with other families who have a child with the same condition – they can offer practical advice and emotional support.

Diet and exercise

Your baby’s diet may be carefully planned. For some conditions, special formulas or avoiding certain foods is essential. As your child grows, they can take part in normal activities and exercise, though some conditions may need adjustments. Always follow your specialist’s advice.

Mental health and emotional wellbeing

Finding out your baby has a condition can be very worrying. It’s normal to feel anxious, sad, or overwhelmed. Remember, you are not alone. Speak to your health visitor, GP, or a counsellor. Looking after your own mental health is just as important as caring for your baby.

Prevention

The conditions tested for are genetic and cannot be prevented. However, the newborn screening blood spot test is a key step in preventing serious complications by finding conditions early.

Vaccines

Vaccines can help prevent some infections that might be more serious for babies with conditions like sickle cell disease. Your baby will be offered all routine vaccines. Follow the recommended schedule.

Screening programmes

Newborn screening is done after birth. There is no screening test available before birth for all the conditions included, but some conditions can be detected through prenatal tests if there is a known risk.

Complications

If left untreated

• Without early detection, conditions like PKU can cause permanent brain damage and learning disabilities.
• Untreated sickle cell disease can lead to severe pain episodes, infections, stroke, and organ damage.
• Untreated cystic fibrosis can cause lung damage and poor growth.

Long-term outlook

With early diagnosis and proper care, most babies with conditions found through newborn screening can lead healthy, happy lives. The outlook is much better when treatment starts early. Your healthcare team will support you every step of the way.

Find support

Local organisations

• NHS Newborn Blood Spot Screening Programme · UK
• Contact – for families with disabled children · UK

Helplines

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