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Updated: May 14, 2025

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
[Genetics in fetal medicine]
Simon Horsholt Thomsen1,2,3, Tina Duelund Hjortshøj4, Malou Barbosa5
1Center for Fosterdiagnostik, Institut for Klinisk Medicin, Aarhus Universitet.
Abstract:
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.
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