435 A PILOT NEWBORN SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA (CAH) AT NEW YORK HOSPITAL(NYH)AND ALASKA:

A pilot newborn screening program for 21-hydroxylase deficiency CAH was conducted in Alaska using a 3mm disc filter paper elution technique of capillary whole blood for 17-hydroxyprogesterone (17-OHP)RIA. The highest values of 17-OHP in 4569 consecutively born normal neonates ages 2-14 d at NYH was 40 pg/disc. The range of values for 16 newborns with proven CAH was 57-980 pg/disc. Thus all Alaskan newborns with 170HP of 57 pg/disc or greater were referred for diagnostic workup and those with 170HP of 41-57 pg/disc were recalled for repeat specimen. In a 19mo period the Alaskan newborns screened on the 3rd day of life consisted of a total of 11,177 consecutive births (7802 Caucasians, 1207 Eskimo). Fifteen had 17-OHP values greater than 57 pg/disc, of which 3 (including 1 Eskimo) were proven to have CAH. Of the remaining 12, 8 were distressed premature infants including 1 infant who died with clinical symptoms of CAH, and 4 were unknown.Of the 21 newborns whose 17-OHP values were 41-56 pg/disc, 11 were recalled and proven to be normal, and 10 were unknown. Thus the neonatal Alaskan screening revealed an incidence of CAH of 1:3901 live births in Caucasians and 1:1207 live births in Eskimos. The predicted carrier rate is 1:32 in the Caucasians and 1:18 in the Eskimos. The false positive and recall rates were .088% and .25% respectively. The present study demonstrates the feasibility of a newborn screening program for CAH and indicates that the frequency of CAH is greater than previously reported by case assessment methods.