DETERMINATION OF ABNORMAL CHROMOSOME CHARACTERISTICS OF BLASTOCYTE ON CF-DNA SAMPLES OF CULTURE MEDIA AND TREATMENT CELLS

Giang Nam Hồ, Thế Sơn Trịnh , Đình Chỉnh Dương, Hoàng Lê, Thị Liên Hương Nguyễn, Thị Hoa Nguyễn, Hữu Lê Nguyễn, Văn Nhật Minh Ngô, Tiến Trường Đặng

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Abstract

Objective: To determine the chromosomal abnormalities of blastocysts on cf-DNA samples of culture medium and trophoblast cells in in vitro fertilization cycles performing non-invasive preimplantation genetic testing (NiPGT-A). Subjects and methods: A cross-sectional observational study on 44 couples who were indicated for preimplantation genetic testing to screen for aneuploidy PGT-A and NiPGT-A who volunteered to participate in the study from 2020-2024 at Tam Anh General Hospital - Hanoi, and were cultured using a single-drop culture process. Results: 98 embryos had concordant aneuploidy detection results on SCM and TE samples, accounting for 73.1%. Of which, 48/98 embryos were classified as concordant level 1 (49.0%); 40/98 embryos were classified as level 2 concordant (40.8%) and 10/98 embryos had completely concordant or level 3 concordant results (10.2%). There were 36 cases of discordance in the ability to detect aneuploidy between NiPGT-A and PGT-A, accounting for 26.9%. There were 108/134 embryos with concordant results for sex chromosomes, accounting for 80.6% and 26 embryos with discordant results, accounting for 19.4%. Among the discordant results, 25 embryos were reported by NiPGT-A to have XX sex chromosomes while PGT-A reported XY sex chromosomes, accounting for 18.6% of the total number of embryos studied and only 1 sample was reported conversely, with the NiPGT-A result being XY and the PGT-A result being XX, accounting for 0.8% of the total number of embryos studied. Conclusion: The rate of chromosomal aneuploidy detection in SCM and TE samples was 73.1%. The results of sex chromosome concordance were 108/134 samples, accounting for 80.6%.

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References

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