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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
9.9K
Recent trends in prenatal genetic screening and testing
Ondrej Pös1, Jaroslav Budiš2, Tomáš Szemes1,2
1Faculty of Natural Sciences, Comenius University, Bratislava, 84215, Slovakia.
F1000Research
|June 20, 2019
Summary
Non-invasive prenatal testing (NIPT) rapidly advances fetal genetic disorder screening using cell-free fetal DNA. While NIPT offers advantages, invasive procedures remain crucial for confirming results and diagnosing Mendelian disorders.
Area of Science:
- Genetics
- Molecular Biology
- Obstetrics
Background:
- Prenatal testing is shifting towards non-invasive methods to assess fetal genetic disorders.
- The discovery of cell-free fetal DNA in maternal plasma has enabled advanced screening techniques.
Purpose of the Study:
- To review current trends in non-invasive prenatal testing (NIPT).
- To discuss the benefits, drawbacks, and clinical implications of NIPT in routine diagnostics.
Main Methods:
- Review of modern high-throughput molecular technologies.
- Analysis of cell-free fetal DNA screening methods for chromosomal aneuploidies.
Main Results:
- NIPT adoption in clinical practice has been rapid and global.
- NIPT is now a standard screening procedure in some regions, like the Netherlands.
Conclusions:
- Non-invasive prenatal testing offers significant advantages for fetal genetic screening.
- Invasive procedures retain importance for NIPT result confirmation and Mendelian disorder diagnosis.
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