Document Detail

Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance.
MedLine Citation:
PMID:  22234478     Owner:  NLM     Status:  Publisher    
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.
Felix Votava; Dana Novotna; Petr Kracmar; Hana Vinohradska; Eva Stahlova-Hrabincova; Zuzana Vrzalova; David Neumann; Jana Malikova; Jan Lebl; Dietrich Matern
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-1-11
Journal Detail:
Title:  European journal of pediatrics     Volume:  -     ISSN:  1432-1076     ISO Abbreviation:  -     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-1-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
3rd Faculty of Medicine and University Hospital Kralovske Vinohrady, Department of Pediatrics, Charles University in Prague, Srobarova 50, 100 34, Prague 10, Czech Republic,
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