Effect of newborn screening for congenital adrenal hyperplasia

Arch Pediatr Adolesc Med. 1999 Dec;153(12):1272-8. doi: 10.1001/archpedi.153.12.1272.

Abstract

Objective: To compare the incidence of diagnosis and morbidity in newborns who were screened with newborns who were not screened for congenital adrenal hyperplasia (CAH).

Design: A retrospective cohort study.

Setting: Arkansas, Oklahoma, and Texas.

Patients: An unscreened population in Arkansas and Oklahoma (n = 400118) was compared with a screened population in Texas (n = 1613378) during a 5-year period. Simultaneous data were collected on the incidence of diagnosis and associated morbidity in patients with CAH.

Main outcome measures: Diagnosis of CAH, age (in days) at diagnosis, and frequency and length of initial hospitalization.

Results: The incidence of diagnosis of classic CAH per 100000 newborns in the unscreened cohort (5.75) and in the screened cohort (6.26) was similar (relative risk, 0.92; 95% confidence interval, 0.58-1.44). The unscreened group had 0.73 fewer male newborns with salt-wasting CAH diagnosed per 100000 newborns (relative risk, 0.73; 95% confidence interval, 0.35-1.56). The median age at diagnosis was 26 days for male newborns with salt-wasting CAH in the unscreened cohort vs 12 days in the screened cohort (z = 2.49; P = .01). Male newborns with simple-virilizing CAH and newborns with nonclassic CAH were detected only in the screened cohort.

Conclusions: There was not a statistically significant (P = .73) increase in the diagnosis of salt-wasting CAH in the screened cohort. Male newborns benefited as a result of significantly (P = .01) earlier diagnosis, reduced morbidity, and shorter lengths of hospitalization. Large collaborative studies or meta-analyses are needed to determine the life-saving benefits of screening.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 17-alpha-Hydroxyprogesterone / blood
  • Adrenal Hyperplasia, Congenital / diagnosis*
  • Adrenal Hyperplasia, Congenital / epidemiology
  • Arkansas / epidemiology
  • Chi-Square Distribution
  • Cohort Studies
  • Female
  • Humans
  • Incidence
  • Infant, Newborn
  • Male
  • Neonatal Screening*
  • Oklahoma / epidemiology
  • Poisson Distribution
  • Retrospective Studies
  • Statistics, Nonparametric
  • Texas / epidemiology

Substances

  • 17-alpha-Hydroxyprogesterone