Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study.
Kevin StroekAn RuiterAnnelieke van der LindeMariëtte T AckermansMarelle J BouvaHenk EngelBernadette JakobsEvelien A KemperErica L T van den AkkerMirjam E van AlbadaGianni BoccaMartijn J J FinkenSabine Elisabeth HannemaE C A Mieke HoudijkHetty J van der KampVera van TellingenAdrianus Sarinus Paulus van TrotsenburgNitash Zwaveling-SoonawalaAnnet M BoschRobert de JongeAnnemieke C HeijboerHedi L Claahsen-van der GrintenAnita BoelenPublished in: The Journal of clinical endocrinology and metabolism (2021)
Application of the second-tier 21-DF measurement to inconclusive first HPs improved our CAH NBS by reducing false positives, abolishing the second HP, and thereby shortening referral time.