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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Preimplantation development analysis of aneuploid embryos with different chromosomal abnormalities
Keyi Si1, Bingxin Ma1, Jian Bai1
1Reproductive Medicine Center, Tongji Hospital, Tongji Medicine College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Investigating aneuploid embryo development revealed that specific chromosomal abnormalities significantly alter morphokinetic parameters. These findings support non-invasive selection of euploid embryos based on distinct developmental patterns.
Area of Science:
- Reproductive Biology
- Genetics
- Embryology
Background:
- Aneuploidy, an abnormal chromosome number, impacts embryonic development.
- Morphokinetic parameters observed via time-lapse monitoring offer potential for non-invasive embryo assessment.
- Understanding how chromosomal abnormalities affect embryo development is crucial for improving selection strategies.
Purpose of the Study:
- To investigate the impact of various chromosomal abnormalities on embryonic morphokinetic patterns.
- To identify specific morphokinetic parameters indicative of aneuploidy.
- To assess the potential for non-invasive selection of euploid embryos based on morphokinetic data.
Main Methods:
- Analysis of 939 time-lapse preimplantation genetic testing cycles involving 2876 biopsied blastocysts.
- Utilized intracytoplasmic sperm injection, blastocyst culture, trophectoderm biopsy, time-lapse monitoring, and next-generation sequencing.
- Employed multilevel mixed-effects logistic regression to analyze morphokinetic parameters and predict ploidy status, adjusting for patient and cycle factors.
Main Results:
- Six key morphokinetic parameters (t5, t8, tSB, tB, t5-t2, tB-tSB) significantly predicted euploid versus aneuploid embryos.
- Embryos with chromosome fragment deletions or duplications showed prolonged morphokinetic parameters, particularly at later cleavage and blastocyst stages.
- Monosomic embryos exhibited prolonged blastocyst stage parameters, and specific deletions (chromosome 20 or 22) caused significant delays across multiple stages.
Conclusions:
- Different chromosomal abnormalities distinctly affect embryonic morphokinetic parameters.
- Significant delays in morphokinetic parameters are observed in embryos with fragment mutations and monosomy.
- These findings provide insights into aneuploid embryo development and support non-invasive embryo selection methods.
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