Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance
Jazyk angličtina Země Německo Médium print-electronic
Typ dokumentu klinické zkoušky, časopisecké články, práce podpořená grantem
- 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
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.
Zobrazit více v PubMed
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