Coverage of the Victorian newborn screening programme in 2003: A retrospective population study

Objective: To assess the coverage of the newborn screening (NBS) program in Victoria, Australia, and identify potential predictors of not being screened. Setting: Victoria, Australia, 2003. The Victorian NBS program screens for phenylketonuria (PKU), cystic fibrosis, congenital hypothyroidism and more than 20 metabolic conditions, such as medium chain acyl‐coenzyme A dehydrogenase (MCAD) deficiency. Methods: Victorian birth records (n = 63,018) were linked to Victorian NBS records (n = 62,876) using probabilistic record linkage. Binary logistic regression was used to identify potential predictors of not being screened. Results: Uptake of NBS was 99.4% (62,643/63,018), resulting in 0.6% (375) of livebirths not matched to a NBS test. Neonatal death was the most significant factor associated with not being screened (relative risk (RR) = 407, 95%Cl = 314 to 526). After adjustment, surviving livebirths had an increased likelihood of not being matched to a NBS record if they: were transferred between hospitals (odds ratio (OR) = 2.4, 95% confidence interval (Cl) 1.5 to 3.9); were born at home (OR = 12.1, 95%Cl 6.3 to 23.3); resided in rural Victoria (OR = 2.6, 95%Cl 1.5 to 4.3); stayed in hospital for one day or less (OR = 4.6, 95%Cl 2.8 to 7.6); or whose mothers were primiparous (OR = 1.5, 95%Cl 1.1 to 2.1). Conclusion: NBS uptake is extremely high in Victoria with over 99% of livebirths screened. Particular risk factors for not having NBS have now been identified, which could lead to changes around monitoring neonates who are not born in a hospital, or leave/transfer hospital, before the NBS period (48–72 hours). Future studies could determine whether those not screened had opted‐out or were not offered NBS.