The aims were to summarize the experience and to determine the performance metrics of newborn screening (NBS) for congenital adrenal hyperplasia (CAH) in the Czech Republic. 17-Hydroxyprogesterone (17OHP) was measured in NBS samples prospectively in 545,026 newborns and retrospectively in 31 CAH patients born outside the study period. A total of 2,811 screened newborns had abnormal 17OHP; CAH was confirmed in 46 probands. One patient with a severe-moderate genotype of CAH had 17OHP below the cut-off and was diagnosed clinically. This corresponds to a screening sensitivity of 98% and a false positive rate (FPR) of 0.51%. The median of 17OHP in the most severe genotypes was 484 nmol/L (n = 21); in severe/moderate, 321 nmol/L (n = 30); in moderate, 61 nmol/L (n = 20); and in mild genotypes, 31 nmol/L (n = 7). NBS is efficient to detect severe CAH but may fail to detect milder variants. However, the FPR is too high but could be improved by application of a second tier test.

• MeSH
• 17-alfa-hydroxyprogesteron krev   MeSH
• biologické markery krev   MeSH
• falešně pozitivní reakce MeSH
• genetické markery MeSH
• genotyp MeSH
• kongenitální adrenální hyperplazie krev   diagnóza   genetika   MeSH
• lidé MeSH
• novorozenec MeSH
• novorozenecký screening metody   MeSH
• prospektivní studie MeSH
• retrospektivní studie MeSH
• senzitivita a specificita MeSH
• steroid-21-hydroxylasa genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• klinické zkoušky MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• 17-alfa-hydroxyprogesteron MeSH
• biologické markery MeSH
• CYP21A2 protein, human MeSH Prohlížeč
• genetické markery MeSH
• steroid-21-hydroxylasa MeSH