European Journal of Pediatrics

, Volume 171, Issue 6, pp 935–940

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

Authors

    • 3rd Faculty of Medicine and University Hospital Kralovske Vinohrady, Department of PediatricsCharles University in Prague
  • Dana Novotna
    • Faculty of Medicine and University Hospital, Department of Pediatrics, BrnoMasaryk University in Brno
  • Petr Kracmar
    • 3rd Faculty of Medicine and University Hospital Kralovske Vinohrady, Department of PediatricsCharles University in Prague
  • Hana Vinohradska
    • Faculty of Medicine and University Hospital, Department of Clinical BiochemistryMasaryk University in Brno
  • Eva Stahlova-Hrabincova
    • Faculty of Medicine and University Hospital, Center of Molecular Biology and Gene TherapyMasaryk University in Brno
  • Zuzana Vrzalova
    • Faculty of Medicine and University Hospital, Center of Molecular Biology and Gene TherapyMasaryk University in Brno
  • David Neumann
    • Faculty of Medicine and University Hospital Hradec Kralove, Department of PediatricsCharles University in Prague
  • Jana Malikova
    • 2nd Faculty of Medicine and University Hospital Motol, Department of PediatricsCharles University in Prague
  • Jan Lebl
    • 2nd Faculty of Medicine and University Hospital Motol, Department of PediatricsCharles University in Prague
  • Dietrich Matern
    • Biochemical Genetics LaboratoryMayo Clinic College of Medicine
Original Article

DOI: 10.1007/s00431-011-1656-6

Cite this article as:
Votava, F., Novotna, D., Kracmar, P. et al. Eur J Pediatr (2012) 171: 935. doi:10.1007/s00431-011-1656-6

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 (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.

Keywords

Newborn screeningCongenital adrenal hyperplasia17-HydroxyprogesteroneCYP21 gene

Copyright information

© Springer-Verlag 2011