Initial reflections following introduction of newborn screening for sickle cell disease in an Australian population.

Abstract

Introduction: As the first Australian state to implement newborn bloodspot screening (NBS) for Sickle Cell Disease (SCD), we aimed to evaluate the introduction of the National Newborn screening Program for Sickle Cell disease in an Australian (September 2025-May 2026). In particular, we sought to assess the rate of detection compared to existing antenatal screening pathways and evaluate the diagnostic utility of the chosen methodology. Method(s): This retrospective review analysed the demographic characteristics and outcomes of all infants identified during the first 8 months following implementation of the newborn screening for SCD in Victoria, Australia. Data was collected from all screen positive infants who were screened through the statewide NBS program and referred for confirmatory testing. Screening results, confirmatory test results, diagnostic subtype, demographic distribution and available antenatal screening results and postnatal management plans were reviewed. Comparative analysis was performed to determine the proportion of cases that would not have had an antenatal and/or postnatal diagnosis in the absence of NBS. Result(s): Out of 47183 individuals screened, 13 cases were referred for further evaluation. Although data collection remains ongoing, preliminary analysis confirmed SCD in 3 out of the 13 referrals (23%). The use of capillary electrophoresis (CE) as the primary screening methodology also provided diagnostic benefit beyond SCD; most notably in the detection of severe beta thalassaemia which accounted for approximately 30% of all referrals. Notably, 33% (n=1/3) of these confirmed SCD cases and 25% (n=1/4) of the severe beta thalassaemia cases had not been identified as being at risk by prior antenatal screening, highlighting gaps in current obstetric screening pathways. Conclusion(s): Implementation of NBS for SCD in Victoria has successfully identified high risk infants who may have faced delayed diagnosis. Our findings also demonstrate that CE methodology offers additional utility in detecting other clinically significant haemoglobinopathies. These results provide the framework for other Australian jurisdictions to optimise screening pathways and emphasise that NBS is an important safety net for the detection of SCD and related disorders in a diverse population. A formal health economic assessment is recommended to further evaluate these potential benefits.