ART助孕后稽留流产胚胎/胎儿组织采用高通量基因测序技术测定染色体的研究  

Embryo/Fetal chromosome study in spontaneous abortion by bath gene sequencing technology in Qinghai region

作　　者：曾湘晖[1] 王莉云[1] 熊正方[1] 王文娟[1] 李斌业[1] 

机构地区：[1]青海省人民医院生殖中心,西宁817007

出　　处：《中国优生与遗传杂志》2017年第12期26-29,共4页Chinese Journal of Birth Health & Heredity

基　　金：2015年青海省卫计委医学科研项目;2016年青海省基础研究计划项目

摘　　要：目的 ART助孕后稽留流产胚胎/胎儿组织采用高通量基因测序技术测定染色体,明确ART助孕后稽留流产遗传方面的原因,为指导下一次妊娠提供遗传方面的依据。方法对我院2015-2016年因稽留流产行清宫术患者,自愿留取胚胎/胎儿组织采用高通量基因测序技术测定染色体,统计染色体异常的类型,正常和异常的比例,统计染色体异常与夫妻年龄、妊娠方式、民族、文化程度、既往妊娠情况、夫妻染色体之间的相关性。首次分析青海地区缺氧对自然流产的影响。结果共纳入120例稽留流产患者,样本检出率100%,检出染色体异常62例(异常率51.67%,数目异常62例,结构异常4例)。(1)女方年龄<35岁组与≥35组,两组差异有统计学意义,女方高龄是导致染色体非整倍体发生的重要影响因素;(2)妊娠方式、文化分组,差异有统计学意义。民族分组,两组差异有统计学意义。既往妊娠情况分组,三组差异无统计学意义,但是自然流产两次组异常率高于其他两组。结论 (1)染色体异常作为引发自然流产的一个主要原因(51.67%),ART助孕不会增加胚胎/胎儿染色体异常,导致稽留流产,非整倍体为染色体异常的主要表现形式(55/62,88.71%),而且异常类型相对集中,具有明显的非整倍性高发核型。(2)对于有2次及以上自然流产患者建议行胚胎/胎儿绒毛染色体检查,复发性流产患者可以考虑行PGS助孕。(3)女方高龄是导致染色体非整倍体发生的重要影响因素,而性染色体单体则多见于较年轻孕妇,16-三体不存在母亲年龄效应。Objective：Embryo/Fetal chromosome study in spontaneous abortion by bath gene sequencing technology in Qinghai region. The study provide genetic basis for guiding the next pregnancy. Methods：Embryo/Fatal tissues in spontaneous abortion from year 2015 to 2016 were collected. The patients divided into many groups according couple′s age,pregnancy way,ethnic,cultural degree and previous pregnancies. Abnormal Chromosome and different numbers of abnormal chromosome were compared among different groups. Results： The was no statical difference of couple′s age,pregnancy way,ethnic,cultural degree and previous pregnancies（P0.05）. Conclusion： Abnormal rates of chromosome 16 were similar in different maternal age subgroup. Advanced materal age is a high risk factor to concerive aneuploidy fetus in groups. Abortunes with multiple aneuploidy and with most of small chromosome aneuploidy occur predominantly in advanced maternal age,whereas abortunses with Turner syndrome are more common in the young gravidas. It suggest that applying PGS in recurrent spontaneous abortion patients is helpful yo avoid implantation of chromosome abnormality embryos and reduce the eatrly abortion rate.

关 键 词：ART 稽留流产 高通量基因测序技术 胚胎/胎儿组织 染色体 

分 类 号：R714.21[医药卫生—妇产科学]