| 男性染色体复杂平衡易位携带者助孕2例并文献复习 |
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| 引用本文： | 金晨曦,王钰峰,张倩,李敬,李鸿昌,颜军昊.男性染色体复杂平衡易位携带者助孕2例并文献复习[J].山东大学学报(医学版),2023,61(4):64-70. |
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| 作者姓名： | 金晨曦 王钰峰 张倩 李敬 李鸿昌 颜军昊 |
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| 作者单位： | 1. 山东大学生殖医学研究中心, 山东 济南 250021;2. 山东省生殖健康临床医学研究中心, 山东 济南 250021;3. 国家辅助生殖与优生工程技术研究中心, 山东 济南 250021 |
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| 基金项目： | 国家自然科学基金(82171648;81901556) |
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| 摘 要： | 目的 探讨男性染色体复杂平衡易位(CCRs)携带者的适宜助孕手段。方法 2例男性CCRs携带者通过胚胎植入前染色体重排检测(PGT-SR)助孕，其中1例夫妇同时行携带者筛查。结果 2例CCRs携带者夫妇均获得可移植胚胎并生育健康子代。其中1例患者联合携带者筛查技术，移植1枚非携带型胚胎，确保生育携带正常核型的后代。2例携带者夫妇的胚胎整倍体率为8.82%(3/34)。结论 PGT-SR可有效帮助CCRs携带者筛选可移植胚胎。携带者筛查技术可进一步筛选非携带型整倍体胚胎，阻断亲代染色体异常向子代的传递。
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| 关 键 词： | 复杂染色体平衡易位 胚胎植入前遗传学检测 携带者筛查 二代测序 |
Two male CCRs carriers with assisted pregnancy and literature review |
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| JIN Chenxi,WANG Yufeng,ZHANG Qian,LI Jing,LI Hongchang,YAN Junhao.Two male CCRs carriers with assisted pregnancy and literature review[J].Journal of Shandong University:Health Sciences,2023,61(4):64-70. |
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| Authors: | JIN Chenxi WANG Yufeng ZHANG Qian LI Jing LI Hongchang YAN Junhao |
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| Institution: | 1. Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan 250001, Shandong, China;2. Shandong Provincial Clinical Medicine Research Center for Reproductive Health, Shandong University, Jinan 250001, Shandong, China;3. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan 250021, Shandong, China |
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| Abstract: | Objective To explore the appropriate means of assisted pregnancy in male complex chromosome rearrangements(CCRs)carriers. Methods Two male CCRs carriers underwent next-generation sequencing(NGS)based preimplantation genetic testing for structural rearrangement(PGT-SR). One of the couples underwent carrier screening to select non-carrier euploidy embryos. Results The two CCRs carrier couples were assisted in pregnancy by PGT-SR(one of them underwent carrier screening at the same time), obtained transferable embryos, and finally gave birth to healthy offspring. The embryo euploidy rate of the two carriers was 8.82%(3/34). Conclusion PGT-SR can effectively help CCRs carriers screen out transplantable euploidy embryos. Carrier screening technology can help carriers to select non-carrier euploidy embryos and block the progeny transmission of chromosomal genetic diseases. |
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| Keywords: | Complex chromosome rearrangement Preimplantation genetic testing Carrier screening Next-generation sequencing |
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