Results from 28 Years of Newborn Screening for Congenital Adrenal Hyperplasia in Sapporo

Abstract

Abstract.The primary goal of newborn mass screening (MS) for congenital adrenal hyperplasia (CAH) is the prevention of life-threatening salt-wasting crisis in the most severe forms of CAH, and MS for CAH has been implemented in several countries. We summarize here our experience and results from newborn CAH MS from 1982 to 2010 in Sapporo City. During these 28 yr, the level of 17-hydroxyprogesterone (17-OHP) was determined in MS of samples from 498,147 newborns. During this period, 26 individuals (19 females and 7 males) with 21-hydroxylase deficiency (21-OHD) were detected. Of the 26 CAH, 20 were classified as having the salt-wasting (SW) form, 4 were classified as having the simple virilizing (SV) form, and 2 were classified as having the noncalssic (NC) form. Therefore, the frequency of the classical type of CAH was 1 in 20,756. In order to improve the effectiveness, we employed high-performance liquid chromatography (HPLC) as a second tier test from 2000. During this period, among the recalled babies, 75.4% were born prior to the 37th wk of gestation age, and the recall rate was 5.38% for premature neonates and 0.06% for mature neonates. MS for CAH in Sapporo is effective for the identification of the SW and SV forms of 21-OHD. However, the recall rate of premature babies is still high after the introduction of HPLC as a second tier test.

Neonatal 17‐hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening

“…During the study period in São Paulo state, no CAH diagnosis with negative screening was reported. A widely considered cause of false‐negative screening results is perinatal treatment with corticosteroids; however, the newly proposed NBS cut‐off level was able to identify the one salt waster that received antenatal glucocorticoid therapy. We recognize that this study has some limitations and that the false‐negative rate could be underestimated due to patients with CAH that remain undiagnosed, patients who moved out of the state, or infants who passed away with unidentified CAH.…”

Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan

“…The survey covered >80% of patients who were theoretically calculated by the reported prevalence of 21-OHD in Japan [10, 11], indicating that this study provided representative data for Japanese children with 21-OHD. Based on the results of the survey, pediatric endocrinologists should acknowledge that adrenal crisis is not rare and still potentially associated with fatal outcome.…”

Current status of newborn screening worldwide: 2015

“…Several recent reports review NBS expansion activities across the region. [141][142][143][144][145][146][147][148][149] At the time or our 2007 report, 6 only Australia, New Zealand, and Taiwan included expanded metabolic screening with MS/MS in their screening panels. 6 Since that time, other countries in the Asia Pacific region have expanded to include not only additional metabolic screening, but also a number of other conditions not in their panels at that time.…”