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

Felix Votava, Dana Novotna, Petr Kracmar, Hana Vinohradska, Eva Stahlova-Hrabincova, Zuzana Vrzalova, David Neumann, Jana Malikova, Jan Lebl, Dietrich Matern

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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 (n021); in severe/moderate, 321 nmol/L (n030); in moderate, 61 nmol/L (n020); and in mild genotypes, 31 nmol/L (n07). 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.

Original languageEnglish (US)
Pages (from-to)935-940
Number of pages6
JournalEuropean Journal of Pediatrics
Volume171
Issue number6
DOIs
StatePublished - Jun 2012

Fingerprint

17-alpha-Hydroxyprogesterone
Congenital Adrenal Hyperplasia
Czech Republic
Genotype
Newborn Infant

Keywords

  • 17-Hydroxyprogesterone
  • Congenital adrenal hyperplasia
  • CYP21 gene
  • Newborn screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic : 17-hydroxyprogesterone, genotypes, and screening performance. / Votava, Felix; Novotna, Dana; Kracmar, Petr; Vinohradska, Hana; Stahlova-Hrabincova, Eva; Vrzalova, Zuzana; Neumann, David; Malikova, Jana; Lebl, Jan; Matern, Dietrich.

In: European Journal of Pediatrics, Vol. 171, No. 6, 06.2012, p. 935-940.

Research output: Contribution to journalArticle

Votava, F, Novotna, D, Kracmar, P, Vinohradska, H, Stahlova-Hrabincova, E, Vrzalova, Z, Neumann, D, Malikova, J, Lebl, J & Matern, D 2012, '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 Pediatrics, vol. 171, no. 6, pp. 935-940. https://doi.org/10.1007/s00431-011-1656-6
Votava, Felix ; Novotna, Dana ; Kracmar, Petr ; Vinohradska, Hana ; Stahlova-Hrabincova, Eva ; Vrzalova, Zuzana ; Neumann, David ; Malikova, Jana ; Lebl, Jan ; Matern, Dietrich. / Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic : 17-hydroxyprogesterone, genotypes, and screening performance. In: European Journal of Pediatrics. 2012 ; Vol. 171, No. 6. pp. 935-940.
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