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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
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Non-invasive preimplantation genetic testing for putative mosaic blastocysts: a pilot study
Xinyuan Li1,2,3, Yan Hao1,2,3, Dawei Chen1,4,5
1Department of Obstetrics and Gynecology, Reproductive Medicine Center, the First Affiliated Hospital of Anhui Medical University, Anhui, China.
Human Reproduction (Oxford, England)
|May 11, 2021
Summary
Non-invasive preimplantation genetic testing (niPGT) shows promise for assessing chromosome abnormalities in mosaic blastocysts. This method accurately identifies euploid embryos, offering a new option for patients with limited blastocyst choices.
Area of Science:
- Reproductive Medicine
- Genetics
- Embryology
Background:
- Non-invasive preimplantation genetic testing (niPGT) uses cell-free DNA for genetic assessment.
- Information on niPGT's reliability for mosaic embryos is limited.
- Mosaicism in embryos raises questions about diagnostic accuracy.
Purpose of the Study:
- To evaluate the potential of niPGT for chromosome abnormalities in mosaic blastocysts.
- To assess the diagnostic performance of niPGT in relation to trophectoderm (TE) biopsy and whole blastocyst analysis.
Main Methods:
- Retrospective analysis of PGT data (2014-2019).
- Re-culturing and testing of 41 mosaic blastocysts using niPGT, TE re-biopsy, and whole blastocyst (BE) analysis.
- Comparison of genetic data from niPGT, TE, and BE to determine diagnostic efficiency.
Main Results:
- niPGT demonstrated good diagnostic performance in mosaic blastocysts.
- 85.4% of mosaic blastocysts showed euploid results upon re-testing.
- niPGT achieved high concordance rates with BE, especially when a 50% mosaicism threshold was applied, with 100% sensitivity and 0% false negative rate.
Conclusions:
- niPGT is a practical and reliable method for reassessing mosaic blastocysts.
- This approach offers a valuable option for patients with only mosaic embryos available.
- niPGT, following re-culturing, presents a minimally invasive strategy for optimizing blastocyst utilization.
