BACKGROUND: Newborn screening (NBS) for classic congenital adrenal hyperplasia (CAH) consists of 17-hydroxyprogesterone (17-OHP) measurement with gestational age-adjusted cut-off values. A second heel puncture (HP) is performed in newborns with inconclusive results to reduce false-positives. We assessed the accuracy and turnaround time of the current CAH NBS-algorithm and compared this to 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... 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
Houdijk, E C A Mieke
van der Kamp, Hetty J
van Tellingen, Vera
van Trotsenburg, A S Paul
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 , Houdijk , E C A M , van der Kamp , H J , van Tellingen , V , van Trotsenburg , A S P , 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-e4996 . https://doi.org/10.1210/clinem/dgab464 |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-26827083 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://hdl.handle.net/11370/fb7c5d94-7cd0-4ac0-8252-bf6e74788490 |
