Confirmation and differential diagnosis of congenital adrenal hyperplasia from dried blood spots by UHPLC‑MS/MS
Newborn screening for congenital adrenal hyperplasia (CAH) has high false-positive rates, necessitating confirmation of primary results. We developed a single LC-MS/MS assay for dried blood spots (DBS) that allows concurrent confirmation and differential diagnosis of CAH. All five steroids (cortisol...
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| Dokumentumtípus: | Könyv része |
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2015
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| Sorozat: | Proceedings of the International Symposium on Analytical and Environmental Problems
21 |
| Kulcsszavak: | Mellékvesebetegségek, Adrenogenitális szindróma, Öröklött betegségek, Hormon |
| Online Access: | http://acta.bibl.u-szeged.hu/55925 |
| Tartalmi kivonat: | Newborn screening for congenital adrenal hyperplasia (CAH) has high false-positive rates, necessitating confirmation of primary results. We developed a single LC-MS/MS assay for dried blood spots (DBS) that allows concurrent confirmation and differential diagnosis of CAH. All five steroids (cortisol, 21-deoxycortisol, 11-deoxycortisol, 4-androstenedione and 17-hydroxyprogesterone) were baseline resolved and reliably determined (UHPLC: PerkinElmer Flexar FX-10; MS/MS: ABSCIEX QTRAP 5500; column: Phenomenex Kinetex XB-C18). In Hungary-Romania Cross-Border Cooperation Project (HU-RO 0802/008 SCREENGEN), the 21-hydroxylase deficient form of CAH was confirmed in one of a total of 163 samples tested positive in primary screening. Our validated assay can use the same DBS as in primary screening (2nd-tier test), eliminating the need for repeated blood sampling and accelerating diagnosis. |
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| Terjedelem/Fizikai jellemzők: | 48-51 |
| ISBN: | 978-963-306-411-5 |