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Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

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@article{78086d06ec5446109b2af27e99199e4a,
title = "Genomisk medicin til pr{\ae}implantations-, 
pr{\ae}- og postnatal diagnostik",
abstract = "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.",
author = "Gerdes, {Anne-Marie Ax{\o}} and Lotte Risom and Susanne Kj{\ae}rgaard and Elsebet {\O}stergaard",
year = "2019",
month = apr,
day = "1",
language = "Dansk",
volume = "181",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "7A",

}

RIS

TY - JOUR

T1 - Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

AU - Gerdes, Anne-Marie Axø

AU - Risom, Lotte

AU - Kjærgaard, Susanne

AU - Østergaard, Elsebet

PY - 2019/4/1

Y1 - 2019/4/1

N2 - 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.

AB - 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.

M3 - Tidsskriftartikel

C2 - 30950380

VL - 181

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 7A

ER -

ID: 58278537