Does newborn screening have 100% sensitivity to detect salt-wasting congenital adrenal hyperplasia? A word of caution: To the editor

摘要

To the Editor In a recent issue of JAMA Pediatrics, Gidlof et al1 reported on 26 years of data from the Swedish newborn screening program for congenital adrenal hyperplasia (CAH), more than double the years of any report on CAH screening, to date. In contrast to other CAH newborn screening reports from the United States and Germany,2"4 Gidlof et al reported that the rate of detection for salt-wasting (SW)-CAH was 100%. Their assertion that none were missed presumes that none of 39 infants who died after an elevated initial screening test result before confirmatory testing was performed had SW-CAH, which was not shown. The authors compared the median 17a-hydroxyprogesterone values among the 39 infants who died with those of infants possessing the null and 12 splice genotypes for the 21-hydroxylase gene (CYP21A2) to conclude, "In the present study, the I7a-hydroxyprogesterone values were lower in infants with positive screening results who died than the levels detected in infants with the potentially life-threatening salt-wasting form of CAH.