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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

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  1. Telemedicin til monitorering af inflammatoriske tarmsygdomme og colon irritabile

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  2. Amyloid transthyretinkardiomyopati

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  3. Rygning i graviditeten

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  4. Androgent insensitivitetssyndrom opdaget pga. diskordans mellem prænatale vurderinger af fosterkøn.

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  5. Behandling af tymom og thymuskarcinom

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  1. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

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  2. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

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  3. Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome

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New technology for genetic testing results in more precise diagnostics and individualised treatment but also identification of variants in genes with unknown association to disease or variants with uncertain significance. Genetic knowledge may involve preconception genetic testing to reduce the risk of passing serious gene variants on to the foetus. Prenatal diagnostics and whole genome sequencing in childhood have also benefitted from the new technology, but ethical dilemmas such as diagnosing a child with a late-onset disorder and potentially harm the child's right to an open future arise.

Translated title of the contributionGenomic medicine for preconception, prenatal and postnatal diagnostics
Original languageDanish
JournalUgeskrift for Laeger
Volume181
Issue number7A
ISSN0041-5782
Publication statusPublished - 1 Apr 2019

ID: 58278537