Genomisk medicin til præimplantations-, præ- og postnatal diagnostik
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Genomisk medicin til præimplantations-, præ- og postnatal diagnostik. / Gerdes, Anne-Marie Axø; Risom, Lotte; Kjærgaard, Susanne; Østergaard, Elsebet.
I: Ugeskrift for Laeger, Bind 181, Nr. 7A, V11180756, 2019.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
Y1 - 2019
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.
KW - Child
KW - Female
KW - Genetic Testing
KW - Genomics
KW - Humans
KW - Medicine
KW - Pregnancy
KW - Prenatal Diagnosis
M3 - Tidsskriftartikel
C2 - 30950380
VL - 181
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
IS - 7A
M1 - V11180756
ER -
ID: 238486485