Evaluating Alignment of Prader-Willi Syndrome with the Australian Newborn Bloodspot Screening Criteria

Prader-Willi syndrome (PWS) is a leading genetic cause of life-threatening obesity, presenting with hypotonia and feeding difficulties in infancy, progressing to hyperphagia, cognitive impairment and behavioural challenges from childhood. It is a rare imprinting disorder caused by gene silencing at the 15q11-q13 locus. Early detection through newborn bloodspot screening (NBS) could enable timely interventions such as growth hormone therapy, dietary management and behavioural support to improve health and developmental outcomes for the affected infants.

This review applies the Australian Newborn Bloodspot Screening National Policy Framework as a reference to evaluate the suitability of incorporating PWS into NBS programs. The review outlines benefits and challenges in relation to key criteria used by this Framework, including condition severity, early detection benefits and screening test reliability.

Emerging screening technologies are recognised for their high sensitivity and specificity and could be integrated into existing NBS workflows using dried blood spots. However, several challenges outlined in this review need to be addressed, including the lack of cost-effectiveness data for population-wide PWS screening programs and the absence of a curative treatment for PWS.

Expanding NBS to include PWS has the potential to improve health and developmental outcomes through earlier diagnosis and timely interventions. Successful implementation will depend on addressing the remaining challenges.