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Screening for disease in the newborn: the evidence base for blood-spot screening
1The Children's Hospital at Westmead and University of Sydney, Sydney, New South Wales, Australia. BridgetW@chw.edu.au
Insights
Newborn screening in Australia shows clear benefits for conditions like phenylketonuria and cystic fibrosis. Improving screening effectiveness involves better disorder selection, second-tier testing, and integrated clinical services.
Area of Science:
- Medical Genetics
- Public Health
- Neonatal Care
Background:
- Newborn screening programs aim to detect treatable genetic and metabolic disorders early.
- Australia currently screens for several key conditions, with ongoing evaluation for new additions.
Purpose of the Study:
- To review the evidence of benefits from current Australian newborn screening programs.
- To assess potential benefits of disorders not yet screened.
- To discuss harms and strategies for improving screening effectiveness.
Main Methods:
- Literature review of evidence for screened and unscreened disorders.
- Analysis of harms associated with screening programs.
- Discussion of strategies for enhancing screening effectiveness.
Main Results:
- Solid evidence supports newborn screening for phenylketonuria, congenital hypothyroidism, cystic fibrosis, and tandem mass spectrometry-screened disorders.
- Some evidence suggests benefits for congenital adrenal hyperplasia, not currently screened in Australia.
- Harms include false positives, unwarranted treatment, and costs, generally minimal in well-run programs.
Conclusions:
- Newborn screening offers significant benefits for several key disorders.
- Enhanced effectiveness can be achieved through rational disorder inclusion, second-tier testing, and managing mild variants.
- Full integration of screening programs, diagnostics, and clinical services is crucial for optimal outcomes.
Abstract:
This paper reviews the evidence of benefit resulting from newborn screening in Australia as well as for some of those disorders not yet included in the Australian panels, and discusses briefly disorders under active consideration for inclusion in the screening panels.There is solid evidence of benefit from newborn screening for phenylketonuria, congenital hypothyroidism, cystic fibrosis, and overall for the disorders included in tandem mass spectrometry screening. There is also some evidence of benefit for several disorders not screened for in Australia, including congenital adrenal hyperplasia. Harms resulting from screening include anxiety related to false positive results; adverse effects of unwarranted treatment for mild variants; unwanted genetic information; and the costs (opportunity costs) of screening. For well-run programs these harms are relatively small.Screening could become more effective with the development of good systems for rational consideration of disorders to be included, with the extended use of second tier testing to reduce the false positive rate, and with research on the most effective way to deal with mild variants. The most important aspect of increasing effectiveness is the full integration of the screening program, diagnostic laboratories, and the clinical service. This is already in place in Australasia.
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