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.

Základní údaje

Originální název

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

Autoři

VOTAVA, Felix; Dana NOVOTNÁ; Petr KRACMAR; Hana VINOHRADSKÁ; Eva HRABINCOVÁ; Zuzana VRZALOVÁ; David NEUMANN; Jana MALÍKOVÁ; Jan LEBL a Dietrich MATERN

Vydání

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

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30209 Paediatrics

Stát vydavatele

Německo

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 1.907

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/12:00063358

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1007/s00431-011-1656-6

UT WoS

000304306100008

Klíčová slova anglicky

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

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

Anotace

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 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://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 = {https://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://doi.org/10.1007/s00431-011-1656-6.

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