Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry
Author(s) -
Jean M. Lacey,
Carla Minutti,
Mark J Magera,
Angela L. Tauscher,
Bruno Casetta,
Mark McCann,
James Lymp,
Si Houn Hahn,
Piero Rinaldo,
Dietrich Matern
Publication year - 2004
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2003.027193
Subject(s) - congenital adrenal hyperplasia , steroid , newborn screening , tandem mass spectrometry , profiling (computer programming) , medicine , chemistry , mass spectrometry , endocrinology , chromatography , computer science , pediatrics , hormone , operating system
Newborn screening for congenital adrenal hyperplasia (CAH) involves measurement of 17alpha-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.
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