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

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

Authors and Affiliations

  • Felix Votava
    • 1
  • Dana Novotna
    • 2
  • Petr Kracmar
    • 1
  • Hana Vinohradska
    • 3
  • Eva Stahlova-Hrabincova
    • 4
  • Zuzana Vrzalova
    • 4
  • David Neumann
    • 5
  • Jana Malikova
    • 6
  • Jan Lebl
    • 6
  • Dietrich Matern
    • 8
  1. 1.3rd Faculty of Medicine and University Hospital Kralovske Vinohrady, Department of PediatricsCharles University in PraguePrague 10Czech Republic
  2. 2.Faculty of Medicine and University Hospital, Department of Pediatrics, BrnoMasaryk University in BrnoBrnoCzech Republic
  3. 3.Faculty of Medicine and University Hospital, Department of Clinical BiochemistryMasaryk University in BrnoBrnoCzech Republic
  4. 4.Faculty of Medicine and University Hospital, Center of Molecular Biology and Gene TherapyMasaryk University in BrnoBrnoCzech Republic
  5. 5.Faculty of Medicine and University Hospital Hradec Kralove, Department of PediatricsCharles University in PragueHradec KraloveCzech Republic
  6. 6.2nd Faculty of Medicine and University Hospital Motol, Department of PediatricsCharles University in PraguePragueCzech Republic
  7. 7.Biochemical Genetics LaboratoryMayo Clinic College of MedicineRochesterUSA
  8. 8.Biochemical Genetics LaboratoryMayo Clinic College of MedicineRochesterUSA