Efficiency of Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency in Children Born in Mainland France Between 1996 and 2003

JAMA Pediatrics, 02/28/2012

Coulm B et al. – In this large population–based study, the efficiency of routine 21–hydroxylase deficiency (21–OHD) screening was moderate in neonates born at term and very low in preterm neonates. They recommend the discontinuation of screening, as currently performed in France, in preterm neonates.


  • Population-based study.
  • National neonatal screening program, pediatric endocrinologists nationwide, and reference center for genotyping.
  • All neonates screened for 21-OHD in mainland France between January 1, 1996, and December 31, 2003
  • Screening efficiency indicators, disease severity, contribution of screening to early diagnosis, and disease-specific mortality before and during the study period.


  • A total of 6012798 neonates were screened; results in 15407 were considered positive for 21-OHD. Three hundred eighty-three cases were identified, giving a prevalence of 1 for every 15699 births.
  • The positive predictive value of screening was 2.3% (95% CI, 2.1%-2.6%), with a sensitivity of 93.5% (90.9%-95.9%) and a specificity of 99.7% (99.7%-99.7%).
  • The false-positive rate was particularly high in preterm infants, for which the positive predictive value was 0.4% (95% CI, 0.2%-0.5%).
  • Screening allowed clinical diagnosis in 162 of 383 cases (42.3%), with the others being detected clinically or through family history.
  • There was a trend toward declining neonatal mortality due to 21-OHD.

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