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Newborn bloodspot screening: setting the Australian national policy agenda

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The recent article by Maxwell and O’Leary1 is timely in outlining the obstacles to introducing newborn screening tests in Australia, and the need for a nationally consistent approach, where the benefits of screening are proven. These obstacles exist despite clear policy developed by the professional newborn screening community.2

The absence of newborn screening for congenital adrenal hyperplasia (CAH) is the clearest example of the impact from the absence of any national mechanism, where initiatives to introduce such testing have bounced between state and federal bodies for many years, despite clear evidence of benefit.3 It is likely that a number of Australian children have died as a result of missed diagnoses while these initiatives have floundered.4 In addition, the incidence of CAH in Aboriginal children is about 2.5 times that in non-Aboriginal children, suggesting an even greater need for national screening.4

CAH newborn screening has benefits additional to reduced mortality. There is a great difference for families in taking onboard the complexities of managing a child with CAH who is well, having been diagnosed through newborn screening, rather than a critically unwell neonate unnecessarily in adrenal crisis in the intensive care unit. Those of us who manage children…