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Genetic and genomic investigations in the neonatal intensive care unit

Burke, Katherine, Howard, Zoe and Kamath, Arveen 2017. Genetic and genomic investigations in the neonatal intensive care unit. Paediatrics and Child Health 27 (1) , pp. 23-27. 10.1016/j.paed.2016.08.001

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Genetic testing is available and widely used in the neonatal intensive care setting for a broad range of complex presentations arising both antenatally and in the postnatal period. Here we discuss the investigations currently available to clinicians in the neonatal intensive care unit, such as array comparative genomic hybridization (aCGH), FISH (fluorescent in situ hybridization) and quantitative florescent polymerase chain reaction (QF-PCR), later looking to the future of clinical genomic testing, in the form of next generation sequencing panels (NGS panels), whole exome (WE) and whole genome (WG) sequencing. The mainstreaming of genetic medicine requires non-genetic specialists, such as neonatologists and paediatricians, to have confidence and knowledge of the testing process, the technologies available and the ethical and social considerations associated with their use.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Uncontrolled Keywords: ethics; genetic testing; genetics; genomics; neonatology
Publisher: Elsevier
ISSN: 1751-7222
Last Modified: 08 Jan 2020 04:55

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