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 programs 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.
Newborn Bloodspot Screening National Policy Framework
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.
The Newborn Bloodspot Screening National Policy Framework (NBS Framework) was endorsed by the Australian Health Ministers Advisory Council (AHMAC) on 8 December 2017 and provides national policy guidance on the elements needed to support the ongoing success of NBS in Australia. The NBS Framework also provides a robust, transparent process for shared national decision-making regarding conditions screened as part of NBS. The decision-making process facilitates the decommissioning of tests for which benefit is limited and the addition of conditions assessed as appropriate for screening, based on evidence and cost-effectiveness.
User Guide and Nomination forms for requesting the assessment of a condition for addition to or removal from newborn bloodspot screening (PDF 215 KB)
User Guide and Nomination forms for requesting the assessment of a condition for addition to or removal from newborn bloodspot screening (Word 46 KB)
The NBS Framework was developed to support the continued success of the NBS programs, and support them to develop into the future. The Standing Committee on Screening’s Newborn Bloodspot Screening Working Group, led the development of the NBS Framework and included representatives from a number of jurisdictions.
The NBS Framework has been informed by significant consultation with experts, programs and the public and included extensive consultation with stakeholders, including consumers, midwives, clinicians and program staff.
Conditions nominated for assessment under the NBS National Policy Framework’s decision-making process
The decision making process is overseen by the Standing Committee on Screening, which is responsible for making a recommendation about the addition or removal of a condition to NBS programs in Australia. Conditions that have been nominated for assessment for addition to the newborn bloodspot screening program include X-linked adrenoleukodystrophy (X-ALD), severe combined immunodeficiency (SCID) and infantile onset Pompe disease (IOPD). Initial reviews on the nominated conditions were completed by the NBS Program Management Committee (includes clinical and program experts) and two conditions had sufficient evidence to progress to a detailed review: X-linked adrenoleukodystrophy (X-ALD) and severe combined immunodeficiency (SCID). Given limited resources, SCoS determined that it would progress the detailed review of SCID as the first priority, and consider reviewing X-ALD at a later date.
Conditions assessed under the NBS National Policy Framework’s decision-making process
The final outcomes of assessments will be published online following completion of the formal detailed assessment and a recommendation made.
On 8 December 2017, AHMAC endorsed the recommendation to screen for Congenital adrenal hyperplasia as part of NBS programs.