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

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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 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. 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. (en)
Title	Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance (en)
skos:prefLabel	Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance (en)
skos:notation	RIV/00216208:11120/12:43896120!RIV13-MZ0-11120___
http://linked.open...avai/predkladatel	3. lékařská fakulta
http://linked.open...avai/riv/aktivita	I P V Z
http://linked.open...avai/riv/aktivity	I, P(NS9981), V, Z(MSM0021620814)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Votava, Felix Kračmar, Petr
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 3. lékařská fakulta
http://linked.open...dnocenehoVysledku	146878
http://linked.open...ai/riv/idVysledku	RIV/00216208:11120/12:43896120
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	CYP21 gene; 17-Hydroxyprogesterone; Congenital adrenal hyperplasia; Newborn screening (en)
http://linked.open.../riv/klicoveSlovo	Newborn screening 17-Hydroxyprogesterone CYP21 gene Congenital adrenal hyperplasia
http://linked.open...odStatuVydavatele	DE - Spolková republika Německo
http://linked.open...ontrolniKodProRIV	[5868B0FDC2BB]
http://linked.open...i/riv/nazevZdroje	European Journal of Pediatrics
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...vavai/riv/projekt	Analysis of CYP21 genes in newborns with mild elevated 17-hydroxyprogesterone level.
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	171
http://linked.open...iv/tvurceVysledku	Votava, Felix Kračmar, Petr
http://linked.open...ain/vavai/riv/wos	000304306100008
http://linked.open...n/vavai/riv/zamer	Prevention, diagnostics and therapy of diabetes mellitus, metabolic and endocrine damage of organism
issn	0340-6199
number of pages	6 (xsd:int)
http://bibframe.org/vocab/doi	10.1007/s00431-011-1656-6
http://localhost/t...ganizacniJednotka	11120
is http://linked.open...avai/riv/vysledek of	Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance

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