Concurrent Confirmation and Differential Diagnosis of Congenital Adrenal Hyperplasia from Dried Blood Spots: Application of a Second-Tier LC-MS/MS Assay in a Cross-Border Cooperation for Newborn Screening
| Autor: | Csaba Bereczki, Eszter Karg, Péter Monostori, Otilia Marginean, Pál Szabó |
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| Rok vydání: | 2015 |
| Předmět: |
Male
Quality Control Analyte medicine.medical_specialty Endocrinology Diabetes and Metabolism International Cooperation Urology Mass Spectrometry Endocrinology Neonatal Screening Liquid chromatography–mass spectrometry Internal medicine Medicine Humans Congenital adrenal hyperplasia False Positive Reactions Dried blood Chromatography High Pressure Liquid Dried Blood Spot Testing Newborn screening Hungary Adrenal Hyperplasia Congenital business.industry Romania Infant Newborn Reproducibility of Results Reference Standards medicine.disease Dried blood spot Pediatrics Perinatology and Child Health Female Steroid 21-Hydroxylase Differential diagnosis business |
| Zdroj: | Hormone research in paediatrics. 84(5) |
| ISSN: | 1663-2826 |
| Popis: | Background/Aims: Newborn screening for congenital adrenal hyperplasia (CAH) is generally performed using 17- hydroxyprogesterone dissociation-enhanced, lanthanide fluorescence immunoassay (DELFIA®). The primary screening results must be confirmed due to high false-positive rates; however, the need to obtain a separate specimen can hamper early recognition, differential diagnosis and treatment. We aimed to develop a single liquid chromatography-tandem mass spectrometry (LC-MS/MS) method that allows both the confirmation and differential diagnosis of CAH using the same dried blood spot (DBS) as in primary screening. Methods: An LC-MS/MS assay for cortisol, 21-deoxycortisol, 11-deoxycortisol, 4-androstenedione and 17-hydroxyprogesterone was developed, validated and applied to a total of 163 DBS samples tested positive in primary newborn screening in a cross-border cooperation. Results: Excellent baseline resolution and reliable determination of all analytes were achieved in DBS samples following simple sample preparation without derivatization. Of a total of 163 DBS samples tested positive in primary screening, the 21-hydroxylase-deficient form of CAH was confirmed in 1 sample. Conclusions: The present LC-MS/MS assay was successfully applied as a second-tier test in a cross-border cooperation for newborn screening. The assay allows concurrent confirmation and differential diagnosis of CAH and can be performed on the same DBS samples as in primary screening, enabling early diagnosis and treatment. |
| Databáze: | OpenAIRE |
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