早期自然流产胚胎绒毛染色体多重连接依赖式探针扩增技术分析

目的分析早期自然流产绒毛组织染色体异常的分布,探讨染色体异常发生率与胎儿性别、孕妇年龄及辅助生殖技术的相关性,为临床遗传咨询和生育指导提供实验室依据。方法应用多重连接依赖式探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)对2019年6~12月广西壮族自治区生殖医院的流产绒毛标本进行染色体检测,并收集患者的相关病历资料进行遗传学分析。结果75例绒毛标本中共检出染色体异常44例(58.7%),其中三体型最为常见(90.9%,40/44)。男胎染色体异常率(71.4%)明显高于女胎(47.5%)(P<0.05);孕妇年龄≥35岁组的胚胎染色体异常发生率明显高于年龄<35岁组(P<0.05);自然受孕与辅助生殖受孕后自然流产的胚胎染色体异常率比较,差异无统计学意义(P>0.05),但卵胞浆内单精子显微注射组高于体外受精组(P<0.05)。讨论胚胎染色体异常可能是早期自然流产的重要原因。胚胎性别、孕妇年龄以及不同方式辅助生殖技术均与绒毛染色体异常的发生有一定关系。用MLPA法可快速、准确、经济地分析流产胚胎染色体情况,对于指导下一次妊娠及优生优育有重要意义。

Embryonic villi chromosome analysis of early spontaneous abortion by multiplex ligation-dependent probe amplification

Objective To provide laboratory basis for genetic counseling and reproductive guidance through analyzing the distribution of chromosomal abnormalities in villi of early spontaneous abortion and investigating the relationship between the incidence of chromosomal abnormalities and the sex of fetal,the age of pregnant woman,assisted reproductive technology.Methods The chromosomes of abortion villi specimens from June 2019 to December 2019 in Reproductive Hospital of Guangxi Zhuang Autonomous Region were detected by multiplex ligation-dependent probe amplification(MLPA).Relevant medical records of patients were collected for genetic analysis.Results A total of 44 cases(58.7%)of chromosomal abnormalities were detected in the specimens of 75 abortion villi,of which trisomy was the most common(90.0%,40/44).Chromosome abnormality rate in male fetus(71.4%)was significantly higher than that in female fetus(47.5%)(P<0.05);the proportion of chromosome abnormalities in villus specimens obtained from women over 35 years was significantly higher than that of women under 35 years(P<0.05);there was no significant difference between natural and assisted conception in chromosome abnormality rate of the aborted embryos(P>0.05),while the proportion of chromosome abnormalities in ICSI group was higher than that in IVF group(P<0.05).Conclusion Embryonic chromosomal abnormality maybe an important cause of early spontaneous abortion.There is certain relationship between the occurrence of chromosome abnormality and embryonic gender,as well as the maternal age and different assisted reproductive technology.MLPA method can be used to analyze the chromosome of aborted embryos quickly,accurately and economically,has important meaning for guiding the next pregnancy and eugenics.