Neonatal screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone assay in filter paper blood spots

Horm Res. 1988;30(6):235-40. doi: 10.1159/000181069.

Abstract

Screening of infants for congenital adrenal hyperplasia (CAH) using filter paper blood samples collected on the 5th day of life was performed with a radioimmunoassay for 17-hydroxyprogesterone without extraction with organic solvents. A total of 153,000 newborns were screened and 12 cases of CAH were detected (1:12,800). With recall levels related to gestational age, the recall rate could be lowered to 0.05%.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 17-alpha-Hydroxyprogesterone
  • Adrenal Hyperplasia, Congenital / blood
  • Adrenal Hyperplasia, Congenital / diagnosis*
  • Biomarkers / blood*
  • Female
  • Gestational Age
  • Humans
  • Hydroxyprogesterones / blood*
  • Infant, Newborn
  • Infant, Premature
  • Male
  • Mass Screening
  • Paper
  • Radioimmunoassay
  • Reference Values

Substances

  • Biomarkers
  • Hydroxyprogesterones
  • 17-alpha-Hydroxyprogesterone