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
This publication has 16 references indexed in Scilit:
- Congenital Adrenal HyperplasiaNew England Journal of Medicine, 2003
- The Application of Tandem Mass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary MetabolismAnnual Review of Genomics and Human Genetics, 2002
- Rapid screening assay of congenital adrenal hyperplasia by measuring 17α‐hydroxyprogesterone with high‐performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spotsJournal of Clinical Laboratory Analysis, 2002
- Tandem Mass Spectrometry in Newborn ScreeningThe Endocrinologist, 2002
- Neonatal Screening for Congenital Adrenal Hyperplasia: 17-Hydroxyprogesterone Levels and CYP21 Genotypes in Preterm InfantsPediatrics, 2001
- Mass Spectrometry Methods for Metabolic and Health AssessmentJournal of Nutrition, 2001
- Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levelsThe Journal of Pediatrics, 1997
- Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometryClinical Chemistry, 1993
- Identification of the Steroids in Neonatal Plasma that Interfere with 17 Alpha-Hydroxyprogesterone RadioimmunoassaysClinical Chemistry, 1992
- Microfilter Paper Method for 17α-Hydroxyprogesterone Radioimmunoassay: Its Application for Rapid Screening for Congenital Adrenal HyperplasiaJournal of Clinical Endocrinology & Metabolism, 1977