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Related Experiment Video

Updated: May 14, 2025

FISH for Pre-implantation Genetic Diagnosis
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[Genetics in fetal medicine].

Simon Horsholt Thomsen1,2,3, Tina Duelund Hjortshøj4, Malou Barbosa5

  • 1Center for Fosterdiagnostik, Institut for Klinisk Medicin, Aarhus Universitet.

Ugeskrift for Laeger
|May 13, 2025
PubMed
Summary

Prenatal genetic testing helps couples identify serious fetal conditions. While non-invasive methods advance, whole genome sequencing offers higher resolution but presents cost and data challenges, necessitating expert counseling.

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnostics
  • Reproductive Medicine

Background:

  • The Danish prenatal program offers genetic testing for serious fetal conditions.
  • Invasive diagnostic methods are the current gold standard for fetal condition diagnosis.
  • Non-invasive prenatal testing (NIPT) technologies are evolving but have limitations in resolution.

Purpose of the Study:

  • To review the landscape of prenatal genetic testing options.
  • To discuss the benefits and challenges of emerging non-invasive technologies and whole genome sequencing.
  • To highlight the importance of genetic counseling and multidisciplinary collaboration in prenatal care.

Main Methods:

  • Review of current prenatal diagnostic technologies.
  • Analysis of advancements in non-invasive prenatal testing (NIPT).
  • Evaluation of whole genome sequencing (WGS) in the prenatal context.

Main Results:

  • Non-invasive technologies offer alternatives to invasive methods but with reduced resolution.
  • Whole genome sequencing provides high resolution but introduces challenges like cost and interpretation of uncertain/secondary findings.
  • Genetic counseling and multidisciplinary teams are essential for informed decision-making.

Conclusions:

  • Prenatal genetic testing empowers couples with information about fetal health.
  • Balancing technological advancements with practical challenges is key in prenatal diagnostics.
  • Comprehensive support through counseling and collaboration is crucial for couples facing complex prenatal genetic information.