Effect of newborn screening for congenital adrenal hyperplasia

Objective: To compare the incidence of diagnosis and morbidity in newborns who were screened with newborns who were not screened for congenital adrena l hyperplasia(CAH). Design: A retrospective cohort study. Setting: Arkansas, Oklahoma, and Texas. Patients: An unscreened population in Arkansas and Oklahoma (n = 400 118) was compared with a screened populat ion in Texas (n = 1 613 378) during a 5-year period. Simultaneous data were collected on the incidence of diagnosis and associated morbidity in patien ts with CAH. Main Outcome Measures: Diagnosis of CAH, age (in days) at diagnosis, and fr equency and length of initial hospitalization. Results: The incidence of diagnosis of classic CAH per 100 000 newborns in the unscreened cohort (5.75) and in the screened cohort (6.26) was similar (relative risk, 0.92; 95% confidence interval, 0.58-1.44). The unscreened g roup had 0.73 fewer male newborns with salt-wasting CAH diagnosed per 100 0 00 newborns (relative risk, 0.73; 95% confidence interval, 0.35-1.56). The median age at diagnosis was 26 days for male newborns with salt-wasting CAI -I in the unscreened cohort vs 12 days in the screened cohort (z = 2.49; P = .01). Male newborns with simple-virilizing CAH and newborns with nonclass ic CAH were detected only in the screened cohort. Conclusions: There was not a statistically significant (P = .73) increase i n the diagnosis of salt-wasting CAH in the screened cohort. Male newborns b enefited as a result of significantly (P = .01) earlier diagnosis, reduced morbidity, and shorter lengths of hospitalization. Large collaborative stud ies or meta-analyses are needed to determine the life-saving benefits of sc reening.