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

J 2012

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

VOTAVA, Felix, Dana NOVOTNÁ, Petr KRACMAR, Hana VINOHRADSKÁ, Eva HRABINCOVÁ et. al.

Basic information

Original name

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

Authors

VOTAVA, Felix (203 Czech Republic, guarantor), Dana NOVOTNÁ (203 Czech Republic, belonging to the institution), Petr KRACMAR (203 Czech Republic), Hana VINOHRADSKÁ (203 Czech Republic, belonging to the institution), Eva HRABINCOVÁ (203 Czech Republic, belonging to the institution), Zuzana VRZALOVÁ (203 Czech Republic, belonging to the institution), David NEUMANN (203 Czech Republic), Jana MALÍKOVÁ (203 Czech Republic), Jan LEBL (203 Czech Republic) and Dietrich MATERN (840 United States of America)

Edition

European Journal of Paediatrics, Springer-Verlag, 2012, 0340-6199

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30209 Paediatrics

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 1.907

RIV identification code

RIV/00216224:14110/12:00063358

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1007/s00431-011-1656-6

UT WoS

000304306100008

Keywords in English

ewborn screening; Congenital adrenal hyperplasia; 17-Hydroxyprogesterone; CYP21 gene

Změněno: 15/2/2013 23:30, Ing. Mgr. Věra Pospíšilíková

Abstract

V originále

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.

Citovat

VOTAVA, Felix, Dana NOVOTNÁ, Petr KRACMAR, Hana VINOHRADSKÁ, Eva HRABINCOVÁ, Zuzana VRZALOVÁ, David NEUMANN, Jana MALÍKOVÁ, Jan LEBL and 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, vol. 171, No 6, p. 935-940. ISSN 0340-6199. Available from: https://dx.doi.org/10.1007/s00431-011-1656-6.

@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 and 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, vol.~171, No~6, p.~935-940. ISSN~0340-6199. Available from: https://dx.doi.org/10.1007/s00431-011-1656-6.

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