International Newborn Screening Practices for the Early Detection of Congenital Adrenal Hyperplasia

Abstract

<b><i>Introduction:</i></b> Newborn screening (NBS) programmes vary internationally in their approach to screening. Guidelines for congenital adrenal hyperplasia (CAH) screening recommend the use of two-tier testing and gestational age cutoffs to minimise false-positive results. The aims of this study were to describe (1) the approaches; (2) protocols used; and (3) available outcomes for CAH screening internationally. <b><i>Methods:</i></b> All members of the International Society for Neonatal Screening were asked to describe their CAH NBS protocols, with an emphasis on the use of second-tier testing, 17-hydroxyprogesterone (17OHP) cutoffs, and gestational age and birth weight adjustments. If available, screening outcomes were requested. <b><i>Results:</i></b> Representatives from 23 screening programmes provided data. Most (<i>n</i> = 14; 61%) recommend sampling at 48–72 h of life. Fourteen (61%) use single-tier testing and 9 have a two-tier testing protocol. Gestational age cutoffs are used in 10 programmes, birth weight cutoffs in 3, and a combination of both in 9. One programme does not use either method of adjusting 17OHP cutoffs. Case definition of a positive test and the response to a positive test differed between programmes. <b><i>Conclusions:</i></b> We have demonstrated significant variation across all aspects of NBS for CAH, including timing, the use of single versus two-tier testing and cutoff interpretation. Collaboration between international screening programmes and implementation of new techniques to improve screen efficacy will facilitate ongoing expansion and quality improvement in CAH NBS.

Laboratory newborn screening in the Czech Republic: results in 2010-2022 period

“…V letech 2010-2021 činil roční průměr počtu falešně pozitivních nálezů 424. V roce 2022 pilotní zavedení druhostupňového vyšetření steroidního profilu (5) pomocí tandemové hmotnostní spektrometrie spřažené s kapalinovou chromatografií (LC-MS/MS), zatím sice jen v Čechách (cca 2/3 novorozenecké populace), vedlo k poklesu tohoto počtu na 182. Po rozšíření i na moravské kraje lze očekávat další pokles.…”