Newborn screening for congenital adrenal hyperplasia

This presentation discusses newborn screening for congenital adrenal hyperplasia (CAH) which is available in most developed countries. Early detection and hormone replacement prevents the progression of salt-wasting crises that can become life-threatening first two weeks life. Screening by 17-hydroxyprogesterone immunoassay sensitive disease but confounded poor specificity premature ill neonates. The use liquid chromatography tandem mass spectrometry as a second-tier test offers improvements to through improved analytical reduces number false positive tests. Sensitivity simple virilising may also be measuring 21-deoxycortisol. Internationally, variable approaches definitions complicate comparison performance metrics. expansion CAH across Australia close ties between laboratory scientists paediatric endocrinologists unique opportunity collaboration large population 350,000 births/y. Data sharing, harmonisation protocols common approach evaluating outcomes ultimately result better all newborns region. Current efforts ANZSPED HGSA committees RCPA QA Program will support harmonised regional screening.