Strategies in Rapid Genetic Diagnostics of Critically Ill Children:Experiences From a Dutch University Hospital
Background: Genetic disorders are a substantial cause of infant morbidity and mortality and are frequently suspected in neonatal intensive care units. Non-specific clinical presentation or limitations to physical examination can result in a plethora of genetic testing techniques, without clear strategies on test ordering. Here, we review our 2-years experiences of rapid genetic testing of NICU patients in order to provide such recommendations. Methods: We retrospectively included all patients admitted to the NICU who received clinical genetic consultation and genetic testing in our University... Mehr ...
Verfasser: |
Imafidon, Miriam E.
Sikkema-Raddatz, Birgit
Abbott, Kristin M.
Meems-Veldhuis, Martine T.
Swertz, Morris A.
van der Velde, K. Joeri
Beunders, Gea
Bos, Dennis K.
Knoers, Nine V. A. M.
Kerstjens-Frederikse, Wilhelmina S.
van Diemen, Cleo C. |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2021 |
Reihe/Periodikum: |
Imafidon , M E , Sikkema-Raddatz , B , Abbott , K M , Meems-Veldhuis , M T , Swertz , M A , van der Velde , K J , Beunders , G , Bos , D K , Knoers , N V A M , Kerstjens-Frederikse , W S & van Diemen , C C 2021 , ' Strategies in Rapid Genetic Diagnostics of Critically Ill Children : Experiences From a Dutch University Hospital ' , Frontiers in Pediatrics , vol. 9 , 600556 . https://doi.org/10.3389/fped.2021.600556 |
Schlagwörter: |
neonatal intensive care (unit)
/ next generation sequencing
/ genetic diagnostics
/ copy number variation
/ genetic disease
/ MEDICAL GENETICS
/ AMERICAN-COLLEGE
/ CLINICAL EXOME |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-26671430 |
Datenquelle: |
BASE;
Originalkatalog |
Powered By: |
BASE |
Link(s) :
|
https://hdl.handle.net/11370/9dd2dd31-9519-45d7-9b38-6f2c611e0d68 |