江西地区997对自然流产夫妇外周血染色体变异分析  

Chromosome variation in peripheral blood of 997 couples with spontaneous abortion in Jiangxi province

作　　者：饶慧华 刘艳秋[1] 黄淑晖[1] 周吉会[1] 杨必成[1] RAO Huihua;LIU Yanqiu;HUANG Shuhui;ZHOU Jihui;YANG Bicheng(Center of Medical Genetics,Jiangxi Ma-ternity and Child Health Hospital,Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control,Nanchang 330006,China)

机构地区：[1]江西省妇幼保健院医学遗传中心,江西省出生缺陷防控重点实验室,南昌330006

出　　处：《实用医学杂志》2022年第13期1680-1684,共5页The Journal of Practical Medicine

基　　金：江西省出生缺陷防控重点实验室建设项目(编号:20202BCD42017);江西省中医药管理局普通科技计划(编号:2021B407)。

摘　　要：目的分析江西地区自然流产夫妇外周血染色体变异的类型、发生率及其在男、女性中的分布差异,探讨自然流产与染色体变异的关系。方法根据流产次数将997对(1994例)自然流产夫妇分为4组:流产1次、2次、3次、≥4次,检测外周血染色体核型并进行统计分析。结果(1)997对自然流产夫妇染色体变异率为13.94%(139/997),包括染色体多态83例,染色体畸变56例,其中平衡易位占总畸变的55.36%(31/56)。(2)流产1次夫妇中男性与女性染色体变异类型差异无统计学意义(P>0.05),但流产≥2次夫妇染色体结构异常与流产1次夫妇比较差异有统计学意义(P<0.05);流产≥4次夫妇染色体多态性与其他组相比差异具有统计学意义(P<0.05)。(3)自然流产3次以内,随着流产次数增加,染色体畸变率增加,两者的关联存在统计学意义(OR=1.648,95%CI:1.163~2.334,P<0.05)。结论染色体易位是造成复发性流产的主要遗传因素,自然流产3次以内染色体畸变率与流产次数成正相关。对于RSA夫妇应常规进行染色体检查,流产≥4次的夫妇应关注染色体多态的遗传效应,评估再生育风险。Objective To explore the relationship between early spontaneous abortion and chromosome variation by analyzing the types,incidence and the distribution between males and females of chromosome variation in couples with spontaneous abortion in Jiangxi province.Methods 997 couples(1994 cases)with spontaneous abortion were divided into 4 groups:1 abortion,2 abortions,3 abortions and≥4 abortions.Chromosome karyotype was detected and statistically analyzed.Results(1)The chromosome variation rate was 13.94%(139/997),including 83 cases of chromosome polymorphism and 56 cases of chromosome aberration,of which balanced translocation accounted for 55.36%(31/56)of the total aberration.(2)There was no significant difference in chromosomal variation types between male and female with one abortion(P>0.05).But there was a significant difference in abnormal chromosome structure between couples who miscarried≥2 times and those who miscarried once(P<0.05).The chromosomal polymorphism of couples with≥4 abortions was significantly different from that of other groups(P<0.05).(3)The chromosomal aberration rate was increased with the abortion times within 3 times,and the correlation between the two was statistically significant(OR=1.648,95%CI:1.163~2.334,P<0.05).Conclusion Chromosome translocation is the main genetic factor causing recurrent abortion.The chromosomal aberration rate is positively correlated with the abortion times within 3 times.For couples with recurrent abortion,routine chromosome examination shall be carried out,and couples with abortion≥4 times shall pay attention to the genetic effect of chromosome polymorphism to assess the risk of reproduction.

关 键 词：自然流产 染色体变异 复发性流产 

分 类 号：R714.21[医药卫生—妇产科学]