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Updated: Dec 20, 2025
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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
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Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements
1Zouves Foundation for Reproductive Medicine and Zouves Fertility Center, 1241 East Hillsdale Blvd, Suite 100, Foster City, CA 94404, USA.
Genes
|June 4, 2020
Summary
Preimplantation genetic testing (PGT) detects chromosomal abnormalities in embryos, improving IVF success and reducing miscarriages. Advanced PGT methods now identify mosaicism and sub-chromosomal changes for better clinical management.
Area of Science:
- Reproductive biology
- Genetics
- Embryology
Background:
- Chromosomal abnormalities are common in human embryos, impacting fertility and ART success rates.
- These defects contribute to miscarriages and congenital disorders, highlighting the need for early detection.
Purpose of the Study:
- To review preimplantation genetic testing for aneuploidy (PGT-A) and structural rearrangements (PGT-SR).
- To emphasize recent advancements and ongoing developments in PGT technologies.
Main Methods:
- Contemporary PGT methods enable detection beyond whole chromosome abnormalities.
- Enhanced sensitivity allows identification of chromosomal mosaicism and sub-chromosomal anomalies like deletions and duplications.
Main Results:
- Refined PGT systems provide more detailed results than simple normal/abnormal classifications.
- New categories of results require specific clinical management strategies.
Conclusions:
- PGT plays a crucial role in selecting viable embryos for transfer, aiming to improve clinical outcomes in infertility treatment.
- Ongoing technological enhancements in PGT continue to refine diagnostic capabilities and clinical applications.
