6-Minute Guide👶

The Heel Prick Test: What All 9 Conditions Are

Every UK newborn has the bloodspot test at 5 days old. Almost no parent knows what it tests for. Here's all 9 conditions in plain English — and critically, what a repeat test actually means.

⏳ 6 minute read  ✓ Evidence-based  🇬🇧 UK-specific

Every newborn in the UK is offered the bloodspot screening test at around 5 days old. Almost every parent says yes without knowing what it tests for. Here's what it's looking for, what the results mean, and what to do if you're called for a repeat.

01

What it tests for — all 9 conditions, plain English

The test checks for 9 rare but serious conditions. Most are genetic — meaning they were present from conception, unrelated to anything in pregnancy, and undetectable before birth.

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Congenital hypothyroidism (CHT)
The thyroid gland is underactive from birth, causing insufficient thyroxine. Without treatment, this leads to severe developmental problems. With early treatment (daily thyroxine tablets), development is completely normal. Has been screened for since 1981.
1 in 3,000 babies
🧳
Cystic fibrosis (CF)
A genetic condition affecting the lungs and digestive system, causing recurrent chest infections and difficulty absorbing nutrients. Early diagnosis allows treatment to begin before symptoms become severe.
1 in 2,500 babies
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Sickle cell disease (SCD)
A group of inherited blood conditions affecting red blood cells, causing episodes of pain, anaemia, and infection risk. Early detection allows preventive treatment (penicillin, vaccinations) from birth.
1 in 2,000 babies
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Phenylketonuria (PKU)
The body can't break down the amino acid phenylalanine. Without a special diet, it builds up and causes brain damage. With a carefully managed low-phenylalanine diet started in the first weeks of life, development is completely normal.
1 in 10,000 babies
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MCADD
Medium chain acyl-CoA dehydrogenase deficiency — the body can't break down certain fats for energy. Fasting can trigger a life-threatening crisis. With dietary management (avoiding prolonged fasting), children live entirely normally.
1 in 10,000 babies
🧸
MSUD (Maple Syrup Urine Disease)
The body can't process certain amino acids. Without treatment, babies become seriously ill within days. With a special diet, development is normal.
1 in 150,000 babies
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IVA (Isovaleric acidaemia)
A metabolic disorder causing a build-up of a specific acid. Managed with diet and sometimes medication.
Very rare
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GA1 (Glutaric aciduria type 1)
A metabolic disorder that can cause brain injury during illness without treatment. Early identification allows protective management.
Very rare
🧸
HCU (Homocystinuria)
The body can't process the amino acid homocysteine. Managed with diet, supplements, and sometimes medication.
Very rare
02

The process: what happens and when you'll get results

At around 5 days old, a midwife or health visitor pricks your baby's heel with a small lancet and collects 4 drops of blood on a special card. This is briefly uncomfortable — feeding and skin contact during or immediately after helps settle your baby.

The card is sent to the lab. Results arrive within 6 weeks of the test (usually sooner) — mostly by letter, sometimes by phone or at your health visitor appointment. The vast majority of results are 'not suspected' — meaning none of the conditions are indicated.

If a result requires follow-up, you will be contacted more quickly — typically within 2–4 weeks for conditions like sickle cell disease, and by 3 weeks for CHT and metabolic conditions, since these require early treatment.

03

A repeat test is usually about sample quality, not a positive result

This is the most practically important piece of information in this guide. If your midwife or health visitor calls to arrange a repeat bloodspot test, the most common reason is a problem with the sample — an insufficient amount of blood, spots that have run together, or a card that dried incorrectly. This is routine and happens in a small percentage of samples.

A recall for a repeat test is not the same as a positive result. It means the first sample couldn't be analysed reliably. The vast majority of repeat tests come back 'not suspected'.

If there is a genuine concern about one of the conditions being present, you will be told explicitly — you will not be left to guess from a 'please come back for a repeat'. The communication at that stage is direct and includes a referral to a specialist.

💡 If you haven’t received any result letter by 8 weeks after the test, contact your midwife or health visitor to check it hasn’t been missed. The test is recommended but not compulsory — if you have concerns, results should be traceable.
04

If a result does indicate a condition

A positive screening result is not a diagnosis — it is a flag that further testing is needed. Screening tests are designed to be sensitive (catch most true positives), which means some positive screens turn out to be false positives on confirmatory testing.

If your baby screens positive for one of the conditions:
• You will be contacted promptly and referred to a specialist paediatric team
• Confirmatory diagnostic tests will be arranged
You will receive full information at every stage
• Treatment for most screened conditions is highly effective when started early

The purpose of newborn screening is precisely this: catching conditions before symptoms appear, so that treatment can start at a stage when outcomes are best. The detection of conditions like PKU, CHT, or MCADD in the first weeks of life, before any symptoms develop, changes outcomes dramatically.

05

Consent, the SCID pilot, and what happens to the blood card

The screening is offered (recommended but not mandatory). You can decline testing for individual conditions — though sickle cell disease, cystic fibrosis, and CHT can be opted out of separately, while the six inherited metabolic diseases are tested as a group. If you have questions or concerns, discuss them with your midwife.

In some areas of England, a SCID screening pilot is ongoing. Severe combined immunodeficiency (SCID) causes serious immune system problems — babies cannot fight infections. SCID screening in some NHS regions is being evaluated for inclusion in the national programme.

The blood spot card is stored securely by the NHS for several years after testing. The stored card may be used (anonymously) for quality assurance, or you may be invited to allow it to be used in research. You can ask about your trust's storage policy if this is a concern.

📖 Want to go deeper?
The Newborn: Birth to 4 Weeks — the full guide
What to expect in the first weeks — the screenings, appointments, and checks that happen, and what they're for.
Read the full guide →
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