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[Do we need congenital adrenal hyperplasia screening for premature infants?]

F Huet1, A Godefroy2, D Cheillan3

  • 1Service de pédiatrie 1, hôpital d'enfants, CHU de Dijon, 21079 Dijon, France; Association française pour le dépistage et la prévention des handicaps de l'enfant, 38, rue Cauchy, 75015 Paris, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|December 24, 2013
PubMed

Insights

Congenital adrenal hyperplasia screening is not relevant for premature infants under 32 weeks gestational age due to high false positives. However, screening remains effective for infants born after 32 weeks.

Area of Science:

  • Neonatal screening
  • Endocrinology
  • Pediatric diagnostics

Context:

  • Congenital adrenal hyperplasia (CAH) neonatal screening implemented in France since 1995.
  • Recent concerns regarding screening relevance in premature infants due to high false positives and low predictive value of 17-hydroxyprogesterone levels.

Purpose:

  • To evaluate the relevance and efficiency of CAH neonatal screening in premature infants.
  • To determine optimal gestational age thresholds for effective CAH screening.

Summary:

  • Analysis of national cohort data for premature infants with CAH compared to healthy controls.
  • Screening is deemed irrelevant for infants born before 32 weeks of gestational age.
  • Screening demonstrates efficiency for infants born at or after 32 weeks of gestational age.

Impact:

  • Identifies specific gestational age criteria for optimizing CAH neonatal screening protocols.
  • Supports evidence-based decisions on discontinuing screening in extremely preterm neonates.
  • A pilot study is underway to assess the discontinuation of screening in this subgroup.

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