Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol

Horm Res. 2001;55(6):271-7. doi: 10.1159/000050012.

Abstract

Objective: To evaluate the influence of gestational age (GA) and birth weight (BW) on 17 alpha-OH-progesterone (17-OHP) levels with respect to their impact on the recall rate of neonatal screening programs for congenital adrenal hyperplasia (CAH).

Patients and methods: In June 1997 we began a pilot screening program for CAH measuring 17-OHP using a fluoroimmunoassay method (DELFIA) on dried blood spots. Until September 1999, 24,153 babies were screened. Among them, we analyzed the levels of 17-OHP in 1,313 samples from healthy preterm babies (23-36 weeks) and 1,500 term babies (>37 weeks), grouped according to GA and BW. All preterm babies underwent another sampling in their 2nd week of life.

Results: 5 CAHs were detected. The 30-nmol/l cutoff limit for 17-OHP in blood corresponded to the calculated 99th percentile in term newborns, while in preterm babies higher levels were found. GA and BW correlated inversely with 17-OHP levels.

Conclusion: GA and BW were useful tools to adjust cutoff levels, obtaining a significant reduction in follow-up testing and psychological stress for families. The high false-positive recall rate in preterm babies can be substantially lowered with adjusted GA and/or BW criteria.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 17-alpha-Hydroxyprogesterone / blood
  • Adrenal Hyperplasia, Congenital / blood
  • Adrenal Hyperplasia, Congenital / complications
  • Adrenal Hyperplasia, Congenital / diagnosis*
  • Adrenal Hyperplasia, Congenital / metabolism
  • Birth Weight
  • Female
  • Follow-Up Studies
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Male
  • Mass Screening / methods*
  • Pilot Projects
  • Sodium Chloride / metabolism
  • Virilism / etiology

Substances

  • Sodium Chloride
  • 17-alpha-Hydroxyprogesterone