Newborn Screening for Congenital Adrenal Hyperplasia in Victoria, Australia

The NBS program for the State of Victoria, Australia is located within the Royal Children’s Hospital Melbourne campus at the Victorian Clinical Genetics Services (VCGS). The NBS laboratory services around 90 maternity service providers, testing approximately 80,000 newborns annually, including for CAH since 2022 [26 (link)]. The dried bloodspot (DBS) sample is usually collected via a capillary heel prick onto Whatman 903 paper when the baby is 36 to 72 h of age [27 ,28 (link)]. On arrival to the laboratory, one 3.2 mm spot is punched from the card for the first tier 17OHP immunoassay which is analysed using the Perkin–Elmer (Turku, Finland) GSP^® Neonatal 17OHP kit. For results ≥20.0 nmol/L blood (approximating the 99th centile), another 3.2 mm punch is taken for second-tier LC–MS/MS steroid analysis.