PREVALENCE OF SEGMENTAL CHROMOSOMAL ABNORMALITY IN BLASTOCYSTS DETECTED BY NEXT-GENERATION SEQUENCING
Nội dung chính của bài viết
Tóm tắt
Objectives: To investigate the incidence and distribution of segmental chromosomal abnormalities in human blastocysts analyzed by next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidy (PGT-A). Methods: A retrospective study was conducted on 994 PGT-A cycles from 859 infertile couples from January 2023 to May 2024. A total of 3,449 trophectoderm-biopsied blastocysts were analyzed using NGS. Segmental chromosomal abnormalities were classified as pure segmental aneuploidy (SA), mosaic SA, complex aneuploidy, and combined mosaicism. Results: Segmental chromosomal abnormalities were detected in 17.3% of blastocysts, including 8.3% with mosaic SA and 3.8% with pure SA. Complex aneuploidy and combined mosaicism accounted for 2.4% and 2.7%, respectively. Segmental chromosomal abnormalities were unevenly distributed across chromosomes, occurring more frequently in larger chromosomes. Segmental losses were more common than gains (56.4% vs. 43.6%). Conclusion: Segmental chromosomal abnormalities are frequently observed in human blastocysts analyzed by NGS-based PGT-A in Vietnam and show a heterogeneous distribution across chromosomes, with segmental losses occurring more often than gains.
Từ khóa
Preimplantation genetic testing for aneuploidy, Segmental aneuploidy, Mosaicism, Blastocyst, Next-generation sequencing
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Tài liệu tham khảo
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