[Genetics in fetal medicine]

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.