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Time is precious. In newborn screening (NBS), more time is often associated with increased risk—risk to a child’s health that comes with the passing of time between NBS and diagnosis of a disorder. In their article titled “Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden: A 26-Year Longitudinal Prospective Population-Based Study,” Gidlöf et al1 show that for assessment of a program’s screening performance, more time is exceedingly valuable. By assessing the program during a 26-year period and the newborns as they grow older, the authors have challenged the notion that NBS for congenital adrenal hyperplasia (CAH) is a lost cause. Moreover, they demonstrate the value of genotyping as part of CAH NBS, especially for predicting neonatal salt-wasting crises.
Tarini BA. The Value of Time in Assessing the Effectiveness of Newborn Screening for Congenital Adrenal Hyperplasia. JAMA Pediatr. 2014;168(6):515-516. doi:10.1001/jamapediatrics.2014.246