Context: Newborn screening (NBS) for classic congenital adrenal hyperplasia (CAH) consists of 17-hydroxyprogesterone (17-OHP) measurement with gestational age-adjusted cutoffs. A second heel puncture (HP) is performed in newborns with inconclusive results to reduce false positives. Objective: We assessed the accuracy and turnaround time of the current CAH NBS algorithm in comparison with alternative algorithms by performing a second-tier 21-deoxycortisol (21-DF) pilot study. Methods: Dried blood spots (DBS) of newborns with inconclusive and positive 17-OHP (immunoassay) first HP results were s... Mehr ...
| Verfasser: |
Stroek, Kevin
Ruiter, An
Van Der Linde, Annelieke
Ackermans, Mariette
Bouva, Marelle J.
Engel, Henk
Jakobs, Bernadette
Kemper, Evelien A.
Van Den Akker, Erica L.T.
Van Albada, Mirjam E.
Bocca, Gianni
Finken, Martijn J.J.
Hannema, Sabine E.
Van Der Kamp, Hetty J.
Mieke Houdijk, E. C.A.
Van Tellingen, Vera
Paul Van Trotsenburg, A. S.
Zwaveling-Soonawala, Nitash
Bosch, Annet M.
De Jonge, Robert
Heijboer, Annemieke C.
Claahsen-Van Der Grinten, Hedi L.
Boelen, Anita |
| Dokumenttyp: |
Artikel |
| Erscheinungsdatum: |
2021 |
| Reihe/Periodikum: |
Stroek , K , Ruiter , A , Van Der Linde , A , Ackermans , M , Bouva , M J , Engel , H , Jakobs , B , Kemper , E A , Van Den Akker , E L T , Van Albada , M E , Bocca , G , Finken , M J J , Hannema , S E , Van Der Kamp , H J , Mieke Houdijk , E C A , Van Tellingen , V , Paul Van Trotsenburg , A S , Zwaveling-Soonawala , N , Bosch , A M , De Jonge , R , Heijboer , A C , Claahsen-Van Der Grinten , H L & Boelen , A 2021 , ' Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands : A Newborn Screening Pilot Study ' , Journal of Clinical Endocrinology and Metabolism , vol. 106 , no. 11 , pp. E4487-E4496 . https://doi.org/10.1210/clinem/dgab464 |
| Schlagwörter: |
/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being
/ SDG 3 - Good Health and Well-being |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-27617453 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://pure.eur.nl/en/publications/499e3834-ad58-4e98-9f12-e797fc111418 |
