The introduction of rapid exome sequencing (rES) for critically ill neonates admitted to the neonatal intensive care unit has made it possible to impact clinical decision-making. Unbiased prospective studies to quantify the impact of rES over routine genetic testing are, however, scarce. We performed a clinical utility study to compare rES to conventional genetic diagnostic workup for critically ill neonates with suspected genetic disorders. In a multicenter prospective parallel cohort study involving five Dutch NICUs, we performed rES in parallel to routine genetic testing for 60 neonates wit... Mehr ...
| Verfasser: |
Olde Keizer, R.A.C.M.
Marouane, A.
Kerstjens-Frederikse, W.S.
Deden, A.C.
Lichtenbelt, K.D.
Jonckers, T.
Vervoorn, M.
Vreeburg, M.
Henneman, L.
de Vries, L.S.
Sinke, R.J.
Pfundt, R.
Stevens, S.J.C.
Andriessen, P.
van Lingen, R.A.
Nelen, M.
Scheffer, H.
Stemkens, D.
Oosterwijk, C.
van Amstel, H.K.P.
de Boode, W.P.
van Zelst-Stams, W.A.G.
Frederix, G.W.J.
Vissers, L.E.L.M.
DE Koning, Bart
Stevens, Servi
van den Wijngaard, Arthur
Sinnema, Margje
Stegmann, Alexander
Vreeburg, Maaike
Brunner La Rocca, Hans-Peter |
| Dokumenttyp: |
Artikel |
| Erscheinungsdatum: |
2023 |
| Reihe/Periodikum: |
Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , H K P , de Boode , W P , van Zelst-Stams , W A G , Frederix , G W J , Vissers , L E L M , RADICON-NL Consortium , DE Koning , B , Stevens , S , van den Wijngaard , A , Sinnema , M , Stegmann , A , Vreeburg , M & Brunner La Rocca , H-P 2023 , ' Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands ' , European Journal of Pediatrics , vol. 182 , no. 6 , pp. 2683-2692 . https://doi.org/10.1007/s00431-023-04909-1 |
| Schlagwörter: |
Diagnostic workflow
/ Neonates
/ Economic evaluation
/ Clinical utility
/ Rapid exome sequencing
/ COSTS |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-26822021 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://cris.maastrichtuniversity.nl/en/publications/c05cff91-fccb-4f17-b524-b4a9b44dda30 |
