Article
Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance.
European journal of pediatrics - 1 Jun 2012
Votava Felix, Novotna Dana, Kracmar Petr, Vinohradska Hana, Stahlova-Hrabincova Eva, Vrzalova Zuzana, Neumann David, Malikova Jana, Lebl Jan, Matern Dietrich
Abstract excerpt
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...
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