Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F12%3A00063358" target="_blank" >RIV/00216224:14110/12:00063358 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/12:8098 RIV/00216208:11120/12:43896120 RIV/00216208:11150/12:10124862 RIV/00179906:_____/12:10124862 and 2 more
Result on the web
<a href="http://dx.doi.org/10.1007/s00431-011-1656-6" target="_blank" >http://dx.doi.org/10.1007/s00431-011-1656-6</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00431-011-1656-6" target="_blank" >10.1007/s00431-011-1656-6</a>

Result language
angličtina
Original language name
Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance
Original language description
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 andwas 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.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
—

Project
<a href="/en/project/NS9981" target="_blank" >NS9981: Analysis of CYP21 genes in newborns with mild elevated 17-hydroxyprogesterone level.</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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