TY - JOUR
T1 - Genetik i føtalmedicin
AU - Thomsen, Simon Horsholt
AU - Hjortshøj, Tina Duelund
AU - Barbosa, Malou
AU - Laursen, Lone
AU - Larsen, Martin Jakob
AU - Hvidbjerg, Marie Skov
AU - Tørring, Pernille M
AU - Sperling, Lene
AU - Lund, Ida Charlotte Bay
AU - Andreasen, Lotte
AU - Ernst, Anja
AU - Sunde, Lone
AU - Balslev-Harder, Marie
AU - Petersen, Olav Bennikke Bjørn
AU - Lou, Stina
AU - Becher, Naja
AU - Vogel, Ida
PY - 2025/4/28
Y1 - 2025/4/28
N2 - The Danish prenatal program and genetic testing provide pregnant couples with the opportunity to learn about serious and potentially life-threatening fetal conditions. While invasive diagnostic methods remain the gold standard, advances in non-invasive technologies are emerging as valuable alternatives but they still have reduced resolution. Whole genome sequencing offers much increased resolution but raises challenges related to costs, uncertain findings, and secondary results. Counselling and multidisciplinary collaboration are critical to supporting couples navigating these complex decisions.
AB - The Danish prenatal program and genetic testing provide pregnant couples with the opportunity to learn about serious and potentially life-threatening fetal conditions. While invasive diagnostic methods remain the gold standard, advances in non-invasive technologies are emerging as valuable alternatives but they still have reduced resolution. Whole genome sequencing offers much increased resolution but raises challenges related to costs, uncertain findings, and secondary results. Counselling and multidisciplinary collaboration are critical to supporting couples navigating these complex decisions.
U2 - 10.61409/V12240853
DO - 10.61409/V12240853
M3 - Tidsskriftartikel
SN - 0041-5782
VL - 187
JO - Ugeskrift for Læger
JF - Ugeskrift for Læger
IS - 9
M1 - V12240853
ER -