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Newborn bloodspot screening
32-minute read
Key facts
- The newborn bloodspot test screens for a number of rare disorders that are more easily treated if found early.
- The test is done in the first 48 to 72 hours after birth.
- The test is free and parents will be asked for consent before the test is done.
- The test is done by pricking your baby's heel and putting a few drops of blood on a special filter paper.
- Most babies tested have normal results and parents are only contacted if there are concerns with the test results.
What is the newborn bloodspot screening test?
All parents are offered the opportunity to have their baby screened for a number of rare disorders that are more easily treated if found early. The newborn bloodspot screening test (previously known as the neonatal screening test) is done in the first 48 to 72 hours after birth. You might also hear it called the 'heel prick' test.
Newborn screening tests are free. The tests are not compulsory, and a verbal or written agreement (depending on the state / territory) is needed from the parents of the child before the heel prick test is done.
Your health team will give you an information pamphlet before your baby has any test. This means that you can ask any questions and give informed consent for newborn bloodspot collection and testing. Parents may refuse the test on behalf of their baby, but this could risk the baby's health.
Most babies screened will not have any of the conditions. For the small number that do, the benefits of screening are enormous. Early treatment can improve their health and prevent severe disability or even death.
How is the test done?
If parents agree to screening, a midwife or nurse will perform the test by pricking your baby's heel with a very thin needle and putting a few drops of blood on a special filter paper.
The heel prick is not comfortable for your baby. The best thing you can do to ease the pain is comfort and hold them during the test. Breastfeeding has also been shown to soothe your baby. There are a number of other techniques you can use to reduce the pain your baby might experience.
The filter paper is allowed to dry and is then sent to the newborn bloodspot screening laboratory where several different tests will be done.
What is being screened for?
Newborn bloodspot screening helps to identify a range of conditions, including these:
Congenital hypothyroidism
|
How common? |
1 in 2,200 |
|
Causes |
Thyroid gland does not produce thyroid hormones (T3 and T4 hormones) |
|
Risks if untreated |
Poor growth, intellectual disability |
|
Treatment and management |
Thyroid hormone supplements |
Amino acid disorders e.g. phenylketonuria (PKU)
|
How common? |
1 in 12,000 |
|
Causes |
Problems with the enzymes that break down protein |
|
Risks if untreated |
Developmental delay, intellectual disability seizures |
|
Treatment and management |
Dietary changes, vitamin supplements |
Congenital adrenal hyperplasia (CAH)
|
How common? |
1 in 15,000 |
|
Causes |
Problems with the enzymes that help balance sugar and salt |
|
Risks if untreated |
Increased male sex hormones, loss of water and salt in the urine, risk of sudden death |
|
Treatment and management |
Adrenal hormone supplements |
Cystic fibrosis
|
How common? |
1 in 3,300 |
|
Causes |
Abnormal secretions in the body, for example thick and sticky mucus in the lungs and problems with the digestive system |
|
Risks if untreated |
Problems with digestive and lung functions, infections and a shorter lifespan. |
|
Treatment and management |
Dietary supplements, physiotherapy |
Fatty acid oxidation disorders
|
How common? |
1 in 12,000 |
|
Causes |
Problems with the enzymes that turn fat into energy |
|
Risks if untreated |
Low blood sugar especially when fasting, muscle and heart problems |
|
Treatment and management |
Avoid prolonged fasting, get advice on dietary modifications |
Check the full list of conditions included in the newborn bloodspot screening test.
Getting the results
All of these disorders are rare. In most babies tested the results are normal. Parents are only contacted if doctors are worried by the test results.
A few babies will need to have a second blood test. This is usually because the first test did not give a clear result. Most babies' second tests will give normal results and your doctor will get the results.
If any of the tests return a positive result and your baby is thought to have one of these conditions, you will be told as soon as possible. Your baby may need further tests to confirm the results. You may be given an appointment with a specialist so that appropriate treatment can begin.
Storage of newborn screening samples
The National Pathology Accreditation Advisory Council requires newborn screening samples to be stored. After the dried blood spot has been tested, it will be stored in a secure locked area until the child is 18 years of age. In some states you can ask for the card to be returned to you after 2 years.
The sample is stored to allow for quality control. It may be used for research after identifying information has been removed.
The sample may also be used for further testing at the request of the parent or guardian, to provide new medical information for the benefit of the family. After a fixed period (dependent on the state / territory), samples are destroyed.
Do I have to consent to newborn screening for my baby?
The tests are not compulsory — it's your choice if you want your baby to have these tests. The benefit of having these tests is that your health team can rule out or detect potentially fatal or disabling conditions in newborns as early as possible. This means that treatment can happen early, even before there are any signs of a disease or condition.
Your doctor or nurse will explain your options, and may use a process called shared decision making. In this process, for each choice, they'll tell you about the risks and benefits involved and how likely it is to be helpful or harmful for your baby. This will help you decide if you'd like to consent to the tests.
Newborn screening tests are free.
Resources and support
For more information about the newborn bloodspot screening test, how it is done and what conditions it tests for, see the NSW Government website.
Speak to a maternal child health nurse
Call Pregnancy, Birth and Baby to speak to a maternal child health nurse on 1800 882 436 or video call. Available 7am to midnight (AET), 7 days a week.