不同性别染色体易位携带者胚胎植入前遗传学检测的临床分析  

Preimplantation genetic testing in different genders carriers of balanced and Robertsonian translocations

作　　者：季娟[1] 王莹[1] 武恂[1] 曹善仁[1] 张军强[1] 凌秀凤[1] 陈晓宁[1] Ji Juan;Wang Ying;Wu Xun;Cao Shanren;Zhang Junqiang;Ling Xiufeng;Chen Xiaoning(Nanjing Maternity and Child Health Care Hospital,Nanjing 210004,Jiangsu,China)

机构地区：[1]南京医科大学附属妇产医院(南京市妇幼保健院),江苏南京210004

出　　处：《中国男科学杂志》2023年第3期48-53,共6页Chinese Journal of Andrology

基　　金：国家自然基金资助项目(81601271);国家重点研发计划(2021YFC2700601)。

摘　　要：目的分析不同性别染色体平衡易位和罗氏易位携带者胚胎植入前遗传学检测(PGT)的临床诊断结果及胚胎移植(ET)的妊娠结局。方法回顾性分析于2018年10月至2022年8月在本中心实施的夫妻双方之一为染色体易位的PGT周期。采用单核苷酸多态微阵列芯片(SNP array)或二代测序(NGS)对囊胚滋养层细胞进行染色体分析。主要比较不同性别染色体易位携带者获得染色体正常的胚胎率以及胚胎移植后的累积临床妊娠率。结果本研究共纳入129例染色体易位患者,其中,男性携带者61例,女性携带者68例;男性携带者的染色体正常胚胎率显著高于女性携带者(30.7%vs.25.1%,P<0.05),然而两者间累积临床妊娠率没有差异。再按相互易位和罗氏易位分别比较,发现平衡易位和罗氏易位携带者获得染色体正常胚胎比例有显著差异(24.5%vs.35.8%,P<0.01);不同性别的平衡易位累积活产率有统计学差异(81.3%vs.47.4%,P<0.01);不同性别的罗氏易位新生儿出生体质量有统计学差异(3325.7±173.5 vs.3651.3±270.7,P<0.01);而不同性别的两种染色体易位的累积临床妊娠率没有显著差异。结论男性携带者的染色体正常胚胎率显著高于女性携带者;平衡易位携带者的染色体正常胚胎率显著低于罗氏易位;男性携带者的平衡易位累积活产率显著高于女性携带者;但男性携带者的罗氏易位新生儿出生体质量显著低于女性携带者。Objective To analyze the difference in clinical diagnosis results and embryo transfer(ET)outcomes of preimplantation genetic testing(PGT)between the different genders carriers of balanced translocations and Robertsonian translocations.Methods PGT cycles with one of couples as carriers of chromosomal translocation were conducted from October 2018 to August 2022 in the reproductive center of the Nanjing Maternity and Child Health Care Hospital.Single nucleotide polymorphisms(SNP array)or next generation sequencing technology(NGS)was applied to analyze the chromosomes of trophoblast cells.Normal blastocysts rate and cumulative clinical pregnancy rate of different gender carriers of balanced translocations and Robertsonian translocations were compared.Results A total of 129 couples were included,61 male carriers and 68 female carriers.The normal embryo rate of male carriers was significantly higher than that of female carriers(30.7%vs.25.1%,P<0.05),but no difference in cumulative clinical pregnancy rate.Further analysis was conducted according to different types of translocations.A significant difference was found in normal blastocysts rate between balanced translocations and Robertsonian translocations(24.5%vs.35.8%,P<0.01);There were obvious differences between different genders in the cumulative live birth rate of balanced translocations(81.3%vs.47.4%,P<0.01)and live birth weight of Robertsonian translocations(3325.7±173.5 vs.3651.3±270.7,P<0.01);However,there was no significant difference in cumulative clinical pregnancy rate between different genders in two types of translocations(P>0.05).Conclusion The normal embryo rate of male carriers was significantly higher than that of female carriers;The normal blastocysts rate of balanced translocations was significantly lower than that of Robertsonian translocations;The cumulative live birth rate of male carriers was significantly higher than that of female carriers in balanced translocations;However,the live birth weight of male carriers was significantly lower than

关 键 词：染色体 易位 遗传 植入前诊断 妊娠率 

分 类 号：R321-33[医药卫生—人体解剖和组织胚胎学] R446.7[医药卫生—基础医学]