Abstract
Dried blood on filter paper collected on the 5th day of life was used to screen infants for CAH. A radioimmunoassay for 17-OHP without extraction with organic solvents was developed. The cut-off level was initially set at 100 nmol/l blood based on analyses of stored blood spots from infants who were subsequently found to have CAH.
In a pilot study 22 400 newborns were screened, and 239 (1.1%) were found to have blood 17-OHP above 100 nmol/l. The majority of these high values (84%) were observed in preterm infants. One case of CAH was detected during this study.
Reassay of blood samples from preterm infants with positive tests after extraction with ether yielded considerably lower 17-OHP levels. A considerable part of the 17-OHP was apparently present as glucuronic acid and monosulphuric acid conjugates.
After introducing cut-off levels related to gestational age and changing to a more specific antibody the screening has continued and included another 18 800 infants. The recall rate during this period was 0.08%. No further case of CAH has so far been detected.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Larsson, A., Cursted, T., von Döbeln, U. et al. NEONATAL SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA (CAH) USING 17-HYDROXYPROGESTERONE (17-OHP) ASSAYS OF DRIED BLOOD SPOTS. Pediatr Res 20, 1201 (1986). https://doi.org/10.1203/00006450-198611000-00163
Issue Date:
DOI: https://doi.org/10.1203/00006450-198611000-00163