| VOTAVA, Felix, Dana NOVOTNÁ, Petr KRACMAR, Hana VINOHRADSKÁ, Eva HRABINCOVÁ, Zuzana VRZALOVÁ, David NEUMANN, Jana MALÍKOVÁ, Jan LEBL a Dietrich MATERN. 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 Paediatrics. Springer-Verlag, 2012, roč. 171, č. 6, s. 935-940. ISSN 0340-6199. Dostupné z: https://dx.doi.org/10.1007/s00431-011-1656-6. |
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@article{1084624,
author = {Votava, Felix and Novotná, Dana and Kracmar, Petr and Vinohradská, Hana and Hrabincová, Eva and Vrzalová, Zuzana and Neumann, David and Malíková, Jana and Lebl, Jan and Matern, Dietrich},
article_number = {6},
doi = {http://dx.doi.org/10.1007/s00431-011-1656-6},
keywords = {ewborn screening; Congenital adrenal hyperplasia; 17-Hydroxyprogesterone; CYP21 gene},
language = {eng},
issn = {0340-6199},
journal = {European Journal of Paediatrics},
title = {Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance},
volume = {171},
year = {2012}
}
TY - JOUR
ID - 1084624
AU - Votava, Felix - Novotná, Dana - Kracmar, Petr - Vinohradská, Hana - Hrabincová, Eva - Vrzalová, Zuzana - Neumann, David - Malíková, Jana - Lebl, Jan - Matern, Dietrich
PY - 2012
TI - Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance
JF - European Journal of Paediatrics
VL - 171
IS - 6
SP - 935-940
EP - 935-940
PB - Springer-Verlag
SN - 03406199
KW - ewborn screening
KW - Congenital adrenal hyperplasia
KW - 17-Hydroxyprogesterone
KW - CYP21 gene
N2 - 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.
ER -
VOTAVA, Felix, Dana NOVOTNÁ, Petr KRACMAR, Hana VINOHRADSKÁ, Eva HRABINCOVÁ, Zuzana VRZALOVÁ, David NEUMANN, Jana MALÍKOVÁ, Jan LEBL a Dietrich MATERN. Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance. \textit{European Journal of Paediatrics}. Springer-Verlag, 2012, roč.~171, č.~6, s.~935-940. ISSN~0340-6199. Dostupné z: https://dx.doi.org/10.1007/s00431-011-1656-6.
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