Exploration of predictive factors for frequencies of alternate segregation during meiosis of recurrent pregnancy loss patients with reciprocal translocations

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K09545
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56040:Obstetrics and gynecology-related
• Research Institution: Nagoya City University
• Principal Investigator: Sato Takeshi 名古屋市立大学, 医薬学総合研究院(医学), 准教授 (80326149)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: 均衡型染色体相互転座 / 染色体分離様式 / 流産 / 不育症 / PGT-SR / 分割期胚 / 胚盤胞

Outline of Final Research Achievements

Chromosome structural rearrangements were examined using trophectoderm cells obtained from blastocysts of couples with recurrent pregnancy loss due to reciprocal translocation. It was found that the frequencies of each chromosome segregation pattern differed between cleavage-stage embryos and blastocysts. Embryos with structurally abnormal chromosomes, exhibiting a high degree of imbalances, were considered more likely to be eliminated as development progressed compared to embryos with alternate segregation or weaker degrees of imbalances.
In blastocysts, the sex of the translocation carrier and the involvement of acrocentric chromosomes in translocations were found to be possibly related to the mode of chromosome segregation.
However, specific factors predicting the frequency of embryos derived from alternate segregation were not identified.

Free Research Field

生殖内分泌、生殖生理、不妊症、不育症

Academic Significance and Societal Importance of the Research Achievements

均衡型染色体相互転座を有する不育症カップルの胚盤胞での染色体分離様式の頻度 (特に交互分離の頻度) とそれに関連する因子についての知見を明らかにし、解析結果を複合的に検討することにより、交互分離の頻度が低くPGT-SRの効果が期待出来る症例の条件を抽出する。それを元に、挙児を望むそれぞれのカップルに対して、推奨すべき妊娠方法（自然妊娠 あるいはPGT-SR）の選択についての有益な情報を提供することが可能となる。それにより、均衡型染色体相互転座を有する不育症カップルが流産を繰り返すことなく生児を獲得することに寄与し、ひいては少子化対策にも繋がることが期待できる。