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The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

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  1. Natarbejde og komplikationer i graviditeten

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  2. Discontinuation of antidepressants

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  3. Donorsøgning til Hæmatopoietisk stamcelle transplantation

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  4. Kan prævention udløse depression?

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  5. Somatiske årsager til akut opståede psykiatriske tilstande hos børn og unge

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  1. SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status

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  3. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

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  4. The impact of gender, puberty, and pregnancy in patients with POLG disease

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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