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Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

Forfatter(e)
Anne-Marie Axø Gerdes, Lotte Risom, Susanne Kjærgaard & Elsebet Østergaard Klinisk Genetisk Klinik, Rigshospitalet

Ugeskr Læger 2019;181:V11180756
Reference: 
Ugeskr Læger 2019;181:V11180756
Blad nummer: 

Anne-Marie Axø Gerdes, Lotte Risom, Susanne Kjærgaard &
Elsebet Østergaard:

Genomic medicine for preconception, prenatal and postnatal diagnostics

Ugeskr Læger 2019;181:V11180756

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

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