Relevant aspects of the congenital adrenal hyperplasia newborn screening

Abstract

INTRODUCTION: The benefit of the newborn screening for congenital adrenal hyperplasia has been demonstrated and the determination of 17-ahydroxyprogesterone (17aOHP) in blood is the frequent used biomarker. In Mexico the prevalence of this disease determined by newborn screening is not well known. OBJECTIVE: To present the congenital adrenal hyperplasia birth prevalence obtained through newborn screening and to describe 17aOHP blood concentrations in Mexican newborns according to sex, gestational age and extrauterine life age at the time of sampling, birth weight and health condition. MATERIAL AND METHODS: Quantitative determination of 17aOHP by immunoflourometric assay in dry blood on filter paper. All those newborns whose samples had a 17aOHP blood concentration value >20 nmol/L, were immediately notified for their localization and confirmatory tests. RESULTS: The birth prevalence of congenital adrenal hyperplasia obtained in this work was 12.6 per 100,000, ie 1:7,920 screened newborns. The 17 aOHP blood concentrations had significant differences according to weight, gestational age and health status. The recall rate was 0.14%. A finding of this study is the high number of suspicious newborns who died without being able to be confirmed (106 dead/1,820 suspects, 5.82%). CONCLUSION: The congenital adrenal hyperplasia birth prevalence was 12.6 per 100.000 (1:7,920) screened newborns. It is necessary to reinforce the newborn screening postanalytical component to reduce the number of non-localized and unconfirmed cases.