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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
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Clinical application of embryo aneuploidy testing by next-generation sequencing
Carmen Rubio1, Lorena Rodrigo1, Carmen Garcia-Pascual1
1Igenomix, Valencia, Spain.
Biology of Reproduction
|February 6, 2019
Summary
Next-generation sequencing (NGS) is now the standard for comprehensive embryo aneuploidy testing, offering accurate results for over 130,000 embryo biopsies. This method improves outcomes, especially for advanced maternal age, and shows promise for non-invasive testing.
Area of Science:
- Reproductive medicine and genetics
- Embryology and preimplantation genetic testing
- Genomic technologies and applications
Background:
- Evolution of embryo aneuploidy testing from FISH to comprehensive chromosomal analysis.
- Next-generation sequencing (NGS) is the current standard for comprehensive aneuploidy testing.
- Over 130,000 embryo biopsies analyzed using NGS technology.
Purpose of the Study:
- To review the evolution and current state of embryo aneuploidy testing.
- To present experience with NGS in a large cohort of embryo biopsies.
- To analyze clinical outcomes, indications, and benefits of aneuploidy testing.
Main Methods:
- Analysis of over 130,000 embryo biopsies using next-generation sequencing (NGS).
- Comparison of aneuploidy rates between trophectoderm and cleavage-stage biopsies.
- Correlation of aneuploidy rates and mosaicism with maternal age, oocyte retrieval, and vitrification.
Main Results:
- Aneuploidy incidence was lower in trophectoderm biopsies than cleavage-stage biopsies.
- Embryo aneuploidy rates increased with maternal age, primarily due to complex aneuploidies.
- Oocyte retrieval numbers and vitrification did not impact aneuploidy rates or mosaicism.
Conclusions:
- NGS is the most appropriate technology for trophectoderm biopsy aneuploidy testing due to accuracy, throughput, and cost-efficiency.
- Embryo aneuploidy testing, particularly for advanced maternal age, shows potential benefits like improved delivery rates and reduced miscarriage.
- Non-invasive preimplantation genetic testing for aneuploidy using cell-free embryonic DNA is a promising future direction.
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