Newborn bloodspot screening

All parents are offered the chance to have their baby screened for some rare conditions. These conditions are more easily treated if found early. The newborn bloodspot screening test (previously known as the neonatal screening test) is done within the first 72 hours after birth (Opens in new tab). You might also hear it called the 'heel prick' test. This test free. It is not compulsory, but it is recommended. Parents need to give verbal or written agreement (depending on the state or territory) before the heel prick test is done.

Your health team will give you information about the newborn bloodspot screening test before your baby has the test. This means that you can ask any questions and give  informed consent. You can refuse the test on behalf of your baby, but this could risk their health.

Most babies screened will not have any of the conditions. For the small number that do, the benefits of screening are big. If a baby is diagnosed early, they can get early treatment for the condition. Early treatment can improve their health and prevent severe disability or even death.

If parents agree to the screening test, a midwife or nurse will prick your baby's heel with a very thin needle and put a few drops of their blood on a special filter paper. 
The filter paper is allowed to dry and is then sent to the newborn bloodspot screening laboratory where several different tests will be done.

The heel prick is not comfortable for your baby. The best thing you can do to ease the pain is comfort and hold your baby during the test. Breastfeeding has also been shown to soothe your baby. There are some other techniques you can use to reduce the pain your baby might experience.

Newborn bloodspot screening helps to identify a range of rare genetic conditions.

Below are some of the conditions tested for. Check the full list of conditions (Opens in new tab) included in the newborn bloodspot screening test. 

Primary congenital hypothyroidism

Primary congenital hypothyroidism is when either the thyroid gland (Opens in new tab) didn’t form at all, didn’t form properly or it doesn’t make thyroid hormones. This happens in 1 in 2,200 births.

If this isn’t treated, the baby will have problems growing and an intellectual disability. Primary congenital hypothyroidism is treated with thyroid hormone supplements. 

Cystic fibrosis

Cystic fibrosis (Opens in new tab) causes thick and sticky mucus to build up in different organs such as the lungs. This happens in 1 in 3,300 births.

If cystic fibrosis isn’t treated, the baby will have severe chest infections (Opens in new tab) and will not thrive.

Medium chain acyl CoA dehydrogenase (MCAD) deficiency

MCAD makes it hard for your body to break down fat. This happens in 1 in 12,000 births.

If MCAD isn’t treated, it can cause common childhood illness to be life-threatening. Treatment involves being extra careful when your child is sick and making sure they are getting enough food. 

Phenylketonuria (PKU)

PKU (Opens in new tab) makes it hard for your body to break down the essential amino acid phenylalanine. PKU happens in 1 in 12,000 births.

If it is not treated, PKU can cause intellectual disabilities, developmental delay and seizures. It is treated by giving your baby a diet low in phenylalanine and with vitamin supplements. 

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia causes problems with the enzymes that help balance your baby’s metabolism, salt levels, and sex characteristics. This happens in 1 in 15,000 births.

It is treated with hormone replacement medicines and salt replacement. 

Spinal muscular atrophy (SMA) 

SMA (Opens in new tab) is when your baby can’t make enough survival motor neuron (SMN) protein. This protein helps make nerves. SMA happens in 1 in 10,000 births.

If not treated, SMA causes weakness of the muscles. There is no cure for SMA but there are treatments to increase the amount of SMN protein in the body. 

Severe combined immunodeficiency (SCID)

SCID is when your baby has problems with their immune system and can’t fight infections. This happens in 1 in 58,000 births.

If SCID isn’t treated, an infection can be life-threatening. If your baby is diagnosed with SCID, they can have specific medical treatment to boost their immune system.

All the conditions that are tested are rare. The test results are normal in most babies. If the screening results are normal, you will not be contacted. You will only be contacted if the doctors are concerned by the test results.

Some babies will need to have a second blood test. This is usually because the first test did not give a clear result. If any of the tests show that your baby might 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.

In Australia, newborn screening samples are stored for at least 2 years for quality assurance and audit purposes. Samples are stored in a secure, locked area and access to stored samples is tightly controlled.

After your baby’s screening sample has been stored for the minimum amount of time required, you can ask for it to be returned to you or to be destroyed.

The sample may be used for more tests in the future if your baby needs them. The sample may also be used for ethics approved health research. This can only happen after all personal information identifying your baby has been removed from the sample.

It's your choice if you want your baby to have these tests or not. A sample cannot be collected from your baby without your consent.

The benefit of having the newborn screening tests is that your health team can rule out or detect potentially life-threatening or disabling conditions as early as possible. This means that treatment can happen early, even before there are any signs your baby has a medical condition.

Your midwife or doctor 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 agree to your baby having the tests or treatment.

For more information about the newborn bloodspot screening test, how it is done and what conditions it tests for, see the NSW Government (Opens in new tab) website.