What is newborn bloodspot screening?Newborn bloodspot screening is a blood test that is used to detect certain rare, genetic conditions and disorders of the metabolism. It usually involves a small prick on the baby’s heel and a few drops of blood placed onto a screening card.
What conditions are screened?Generally about 25 conditions are tested for, with the most common including:
- Phenylketonuria (PKU), in which the liver does not produce enough of a particular enzyme and can cause intellectual disability if untreated
- Hypothyroidism, in which not enough thyroid hormone is produced and can cause intellectual disability and growth problems if untreated
- Cystic fibrosis (CF), an untreatable but manageable condition which causes the lungs and gastrointestinal system to produce an abnormal mucus that clogs the affected organs and stops them from working properly
- Galactosaemia, a rare disorder caused by the build-up of galactose (a sugar in milk) in the blood, which causes problems such as poor growth, liver disease and intellectual disability or death if untreated
How is newborn bloodspot screening delivered?Newborn bloodspot screening programmes are funded by state and territory governments. There are variations in what conditions are screened for in each state and territory.
More information can be provided by your health practitioner or local state or territory health department.
Developing a policy framework for newborn bloodspot screeningAustralian governments are currently working to develop a policy framework for newborn bloodspot screening. Newborn bloodspot screening programs have operated successfully in Australia for 50 years. The programs screen more than 99 per cent of all newborns for approximately 25 conditions, which benefit from early intervention.
A national policy framework is being developed to support the continued success of the programs, and support them to develop into the future. This project is being led by the Standing Committee on Screening, through its national, multidisciplinary Newborn Bloodspot Screening Working Group.
The project will involve extensive consultation with stakeholders, including consumers, midwives, clinicians and program staff. It is expected that the policy framework will be completed in early 2016. More about the project, including updates from each working group meeting and information on consultation approaches, can be found on the project website.