Abstract
A pilot newborn screening program for CAH was conducted in Alaska using a 3mm disc filter paper elution technique of capillary whole blood for 17-hydroxyprogesterone (17-OHP) by RIA. In a control normal population the highest values of 17-OHP in 4569 consecutive births (ages 2-14 days) was 40 pg/disc and the range of values for 16 newborns with proven CAH was 57-980 pg/disc. Thus all Alaskan newborns with 17-OHP of 57 pg/disc or greater were referred for diagnostic workup and those with 17-OHP of 41-56 pg/disc were recalled for repeat specimen. In 11,177 neonates screened in a 19mo period (7802 Caucasians, 644 Yupik Eskimos, 2731 others) 15 had 17-OHP values greater than 57 pg/disc, of which 3 (including 2 Yupik Eskimos) were proven to have the salt-losing form of CAH. Of the remaining 12, 4 were not available for followup and 8 were distressed premature infants including 2 who died. Of the 21 whose 17-OHP values were 41-56 pg/disc, 14 were proven to be normal, and 7 could not be reached. Thus the neonatal Alaskan screening revealed an incidence of the salt-losing form of CAH of 1:7802 live births in Caucasians and 1:322 live births in Yupik Eskimos. The predicted carrier rate is 1:44 in the Caucasians and 1:9.5 in the Yupik Eskimo. The false positive and recall rates were 0.088% and 0.25%. This study demonstrates the feasibility of a newborn screening program for CAH and indicates the frequency of the salt-losing form of CAH may be greater than previously reported by case assessment methods.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pang, S., Murphey, W., Levine, L. et al. A pilot newborn screening for congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency at New York Hospital(NYH) and Alaska. Pediatr Res 15, 1545 (1981). https://doi.org/10.1203/00006450-198112000-00062
Issue Date:
DOI: https://doi.org/10.1203/00006450-198112000-00062
This article is cited by
-
Neonatal screening programme for congenital adrenal hyperplasia in a homogenous Caucasian population
Journal of Inherited Metabolic Disease (1986)