A pilot newborn screening for congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency at New York Hospital(NYH) and Alaska

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.