Newborn Bloodspot Screening (Heel-Prick Test)
What the heel-prick test looks for, why it's done at 48–72 hours, and what to do if you get a recall.
- Last reviewed
- Sources cited
- 4 sources
- Author
- Dr Jubal John, FRACP
- Category
- medical guides
This page is being reviewed
We’re double-checking this content before publishing it — it’ll be available here shortly.
In the meantime, browse the published guides or contact the rooms.
Take-home
The newborn bloodspot screening (heel-prick, “Guthrie test”) is offered to every baby at 48–72 hours of age. A few drops of blood on a card are tested for more than 30 serious but treatable conditions on the current Victorian panel. These are mostly metabolic and endocrine disorders, haemoglobinopathies, cystic fibrosis, and severe combined immunodeficiency (SCID). Only a small fraction of babies has a true positive, and for those, early treatment often prevents serious harm or saves life.
What it is
One card, many conditions
A few drops of blood taken from the heel at 48–72 hours are tested for a panel of serious but treatable conditions, including:
- Metabolic disorders (e.g. phenylketonuria, MCADD)
- Endocrine disorders (congenital hypothyroidism, CAH)
- Haemoglobinopathies (e.g. sickle cell disease)
- Cystic fibrosis
- Severe combined immunodeficiency (SCID)
The full Australian panel screens for ~25 conditions and expands over time. Parents are asked to consent before the test.
A nurse or midwife gently warms your baby’s heel, pricks it with a small device, and collects four drops of blood onto an absorbent card. The card is sent to the state laboratory (Victorian Clinical Genetics Services in Victoria) and tested over the next few days.
The test happens 48–72 hours after birth, early enough to catch conditions before symptoms appear, late enough for milk feeding to have started (some tests rely on markers that need a day or two of feeding).
Consent
Screening is voluntary. Parents are given an information sheet before birth and asked to consent at the time of testing. Declining is your right; if you’re considering it, we’d want to talk about the specific conditions and what declining would mean, because the benefit is substantial for a very small number of babies.
What’s on the panel
The screening panel has expanded steadily: Victoria currently screens for more than 30 conditions, and it grows as new tests are validated. The current panel is listed on the VCGS website. (Recent additions: congenital adrenal hyperplasia, spinal muscular atrophy, SCID, sickle cell disease and biotinidase deficiency.) The conditions are grouped as:
Metabolic disorders
Problems in how the body handles certain nutrients. Untreated they can cause brain damage, seizures, or death; with early dietary or medical treatment most children develop normally.
Examples: phenylketonuria (PKU), medium-chain acyl-CoA dehydrogenase deficiency (MCADD), maple syrup urine disease, galactosaemia, several fatty acid oxidation and organic acid disorders.
Endocrine disorders
- Congenital hypothyroidism: treatable with daily thyroxine, prevents intellectual disability
- Congenital adrenal hyperplasia (CAH): treatable with hydrocortisone, prevents life-threatening salt-wasting crises
Haemoglobinopathies
- Sickle cell disease, thalassaemia: earlier diagnosis supports planning and family testing
Cystic fibrosis
Biochemical screen (IRT) + sweat test / genetic confirmation. Allows early respiratory and nutritional care that changes long-term outcomes.
Severe combined immunodeficiency (SCID)
A rare but treatable immune condition. Early detection allows bone marrow transplant before serious infection, a true life-saving test.
What happens after the test
Most babies: no news is good news
The vast majority of results are normal. You won’t usually get a phone call, the result is filed with your baby’s records and your GP / paediatrician can see it.
Some babies: a “recall” for repeat
Most recalls are not because of a positive result. Common reasons:
- The sample was taken too early (< 24 hours) or was too small
- The baby was on antibiotics or in NICU, which can affect some markers
- A borderline result that needs repeating
If you are asked to come in for a repeat heel-prick, it is usually a technical reassurance, not an abnormal diagnosis.
A small number: positive screen
A small fraction of babies have a true positive screen (see the VCGS NBS program description for details on the conditions screened). The pathway then:
- Your paediatrician or the state NBS programme calls you directly
- A confirmatory test is arranged (specific blood test, genetic test, or sweat test)
- If confirmed, a specialist team contacts you within days and starts treatment
A positive screen is not a diagnosis
The screening test is deliberately sensitive, it errs on the side of calling “possibly positive” rather than missing a case. Many positive screens turn out, on confirmatory testing, to be normal. Try not to alarm yourself until the follow-up test is done.
When to seek help
Green — usually fine
Green: all normal
- Heel-prick taken at 48–72 hours
- No recall phone call in the first 2 weeks
- Baby feeding and growing well
Amber — be alert
Amber: follow up
- You haven’t had a heel-prick at all by day 5 (rare, check with your hospital or MCH nurse)
- You’re asked for a repeat test
- You never received an information sheet and want to understand what was tested
Red — act now
Red: seek review
- You’ve been contacted about a positive screen and haven’t yet had a follow-up appointment arranged
- Your baby is unwell in the first weeks, feeding poorly, lethargic, vomiting, jaundiced, or seizing, regardless of screening result (some conditions present before the screen is back)
Common questions
“Does the heel-prick hurt?”
Brief discomfort. Techniques that reduce it:
- Warming the heel for 5 minutes first
- Breastfeeding or giving expressed milk during the test (analgesic effect)
- Skin-to-skin contact
- Sucrose drops (in some services)
- Using the lateral edge of the heel (fewer pain fibres)
Most babies cry briefly, settle on the breast, and the test is done in under 5 minutes.
“What happens to the card afterwards?”
In Victoria, the card is stored by VCGS. Storage policies vary by state, you can request your baby’s card be destroyed after testing if you’d prefer. The card is not used for identification or law-enforcement purposes.
“Can I see what was tested for?”
Yes. VCGS publishes the current panel on their website, and your hospital will give you an information sheet at discharge.
“Is this the same as the genetic test my GP offered during pregnancy?”
No. Antenatal carrier screening looks for your and your partner’s carrier status for selected conditions. Newborn bloodspot screening tests the baby directly for a set of conditions where early treatment changes outcome, different tests with different aims.
“Are there conditions it doesn’t test for?”
Many. The panel focuses on conditions where (1) early detection changes outcome, (2) a reliable test exists, and (3) treatment is available. Most childhood conditions (autism, cerebral palsy, many single-gene disorders) aren’t on the panel because they don’t meet those criteria.
Related reading
Questions about your baby's screening results?
If you've been called back for a repeat test, or want to talk through what the panel covers, we can help.