男性染色体复杂平衡易位携带者助孕2例并文献复习

doi:10.6040/j.issn.1671-7554.0.2022.1274

山东大学学报 (医学版) ›› 2023, Vol. 61 ›› Issue (4): 64-70.doi: 10.6040/j.issn.1671-7554.0.2022.1274

• 临床医学 • 上一篇

男性染色体复杂平衡易位携带者助孕2例并文献复习

金晨曦^1,2,3,王钰峰^1,2,3,张倩^1,2,3,李敬^1,2,3,李鸿昌^1,2,3,颜军昊^1,2,3

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

发布日期:2023-04-11
通讯作者: 颜军昊. E-mail:yyy306@126.com
基金资助:
国家自然科学基金(82171648;81901556)

Two male CCRs carriers with assisted pregnancy and literature review

JIN Chenxi^1,2,3, WANG Yufeng^1,2,3, ZHANG Qian^1,2,3, LI Jing^1,2,3, LI Hongchang^1,2,3, YAN Junhao^1,2,3

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

Published:2023-04-11

摘要/Abstract

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。

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

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.

Key words: Complex chromosome rearrangement, Preimplantation genetic testing, Carrier screening, Next-generation sequencing

中图分类号:

R394.3

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.

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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男性染色体复杂平衡易位携带者助孕2例并文献复习

Two male CCRs carriers with assisted pregnancy and literature review

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