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Updated: Sep 8, 2025
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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
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Changes in sequencing technology used for preimplantation genetic testing for aneuploidy
Vivianne Elizabeth Oltramare1, Catherine McDermott1, Paul Joseph Dunn2
1Faculty of Health Sciences & Medicine, Bond University, 14 University Drive, Robina QLD 4226, Gold Coast, Australia.
Journal of Assisted Reproduction and Genetics
|July 11, 2025
Summary
Preimplantation genetic testing for aneuploidy (PGT-A) has advanced significantly, moving from early methods to next-generation sequencing. Emerging nanopore sequencing offers potential for faster, in-clinic testing to improve pregnancy outcomes.
Area of Science:
- Reproductive Medicine
- Genetics
- Embryology
Background:
- Assisted reproductive technologies aim to enhance pregnancy success.
- Increased chromosomal abnormalities are linked to advanced maternal age, recurrent implantation failure, and pregnancy loss.
- Preimplantation genetic testing for aneuploidy (PGT-A) screens embryos for chromosomal abnormalities.
Purpose of the Study:
- To review the evolution of PGT-A methods.
- To focus on next-generation sequencing (NGS) advancements in PGT-A.
- To discuss the current status and future potential of PGT-A technologies.
Main Methods:
- Historical review of PGT-A techniques, starting with fluorescence in situ hybridization (FISH).
- Examination of microarray and next-generation sequencing (NGS) platforms for comprehensive chromosomal screening.
- Discussion of emerging nanopore sequencing technology for PGT-A.
Main Results:
- Early PGT-A methods like FISH had limitations.
- Microarray and NGS enabled screening of all 23 chromosome pairs.
- Current NGS-based PGT-A typically requires external laboratory analysis.
Conclusions:
- NGS has significantly improved PGT-A capabilities.
- Nanopore sequencing presents an opportunity for in-clinic PGT-A, potentially reducing turnaround times.
- Continued technological evolution in PGT-A aims to optimize embryo selection and improve IVF success rates.
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