Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry
- 1 March 2004
- journal article
- research article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 50 (3) , 621-625
- https://doi.org/10.1373/clinchem.2003.027193
Abstract
Background: Newborn screening for congenital adrenal hyperplasia (CAH) involves measurement of 17α-hydroxyprogesterone (17-OHP), usually by immunoassay. Because this testing has been characterized by high false-positive rates, we developed a steroid profiling method that uses liquid chromatography–tandem mass spectrometry (LC-MS/MS) to measure 17-OHP, androstenedione, and cortisol simultaneously in blood spots.Keywords
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