Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013

Abstract

Objective: The objective of the study was to evaluate the efficacy of national newborn screening for severe congenital adrenal hyperplasia (CAH) in New Zealand over the past 20 years. Methods: Newborn screening for CAH is performed through the estimation of 17-hydroxyprogesterone by a Delfia immunoassay. CAH cases diagnosed in the newborn period from 1994 to 2013 were identified from Newborn Metabolic Screening Programme records. Results: Between 1994 and 2013, 44 neonates (28 females, 16 males) were diagnosed with CAH, giving an incidence of 1:26 727. Almost half (n = 21) of the newborns with CAH were detected solely via screening (not clinically suspected), including 21% of all affected females. Among the group solely ascertained by screening, 17-hydroxyprogesterone sampling occurred at a mean age of 3.3 days (range 2-8 d), the duration from sampling to notification was 5.2 days (0-12 d), and treatment was initiated at 12.0 days (6-122 d). Vomiting was present in 14% of those ascertained by screening, but none had hypotension or collapse at diagnosis. Increasing age at treatment was correlated with a progressive decrease in serum sodium (r = -.56; P