染色体数目和拷贝数异常与复发性流产关系及可能影响因素

Relationship between the abnormal numbers of chromosome and copy of chromosome of women and their recurrent spontaneous abortion and analysis of the factors affecting the recurrent spontaneous abortion

目的:分析染色体数目和拷贝数异常与复发性流产关系及影响因素。方法:以2019年3月-2020年12月本院就诊的复发性流产患者90例为复发组,其中流产2次36例、3次34例、4次20例;同期治疗的偶发性流产患者50例为对照组。比较不同流产特征患者流产组织细胞染色体数目和拷贝数异常并分析危险因素。结果:流产组织细胞染色体发生四体率和多倍体率复发组与对照组无差异(P>0.05),发生单体率(14.4%)和三体率(50.0%)均高于对照组(2.0%、30.0%);复发组不同流产次数患者发生四体率、多体率无差异(P>0.05),发生单体率和三体率有差异(P>0.05)。复发组染色体数目和拷贝异常率(84.4%)高于对照组(42.0%),染色体致病性拷贝变异率(15.6%)高于对照组(4.0%),且在流产2次(8.3%)、3次(11.8%)、4次(35.0%)逐渐升高(均P<0.05)。复发组中染色体数目和拷贝异常者年龄(34.2±2.6岁)、流产次数(3.1±0.5次)以及自身免疫抗体阳性率(28.9%)均高于染色体拷贝正常者(26.9±2.8岁、2.7±0.6次、10.0%);多因素分析显示,年龄高、流产次数多以及自身免疫抗体阳性率高均是造成复发性流产者染色体数目和拷贝异常的危险因素(P>0.05)。结论:复发性流产患者染色体数目和拷贝数异常发生率升高,而年龄、流产次数及自身免疫性抗体水平是染色体异常的危险因素,提示临床加以重视。

Objective:To analyze the relationship between the abnormal numbers of the chromosome and the copy of chromosome of women and their recurrent spontaneous abortion,and to study the influence factors of the recurrent spontaneous abortion.Methods:90 women with recurrent abortion were selected in study group from March 2019 to December 2020,which included 36 women with two times of abortion,34 women with three times of abortion,and 20 women with four times of abortion.Another 50 women with once occasional abortion were selected in control group during the same period.The abnormal chromosome number and copy number of chromosome in amniotic fluid cells of the women with different abortion characteristics were compared.The risk factors of the recurrent spontaneous abortion of the women were analyzed.Results:There was no significant difference in the rate of chromosome tetrisomy and polyploidy in amniotic fluid cells of the women between the two groups(P>0.05),but the rates of chromosome monomer(14.4%)and trisomy(50.0%)of the women in the study group were significantly lower than those(2.0%and 30.0%)of the women in the control group.In the study group,there was no significant difference in the rate of chromosome tetrisomy among the women with different abortion times(P>0.05),but the rates of chromosome monomer and chromosome trisomy of the women had significant different among the women with different abortion times(P<0.05).The number of abnormal chromosome of the women in the study group was significantly higher than that of the women in the control group.The rate of abnormal abnormal chromosome copy(84.4%)of the women in the study group was significantly higher than that of the women in the control group(42.0%).The pathogenic mutation rate of copy of chromosome(15.6%)of the women in the study group was significantly higher than that(4.0%)of the women in the control group.The pathogenic mutation rate of copy of chromosome of the women with two times of abortions(8.3%),of the women with three times of abortions(11.8%),and of the women with four times of abortions(35.0%)had increased gradually(all P<0.05).In the women with recurrent spontaneous abortion,the age(34.2±2.6 years old),the number of abortions(3.1±0.5 times),and the positive rate of autoimmune antibody(28.9%)of the women with abnormal chromosome number and abnormal copy number of chromosome were higher than those(26.9±2.8 years,2.7±0.6 times,and 10.0%)of the women with normal chromosome number and normal copy number of chromosome.Multivariate analysis showed that advanced age,repeatedly abortions,and high positive rate of autoimmunity antibody of the women were risk factors of their abnormal chromosome number and abnormal copy of chromosome(P>0.05).Conclusion:The incidences of abnormal chromosome number and abnormal chromosome copy number of the women with recurrent spontaneous abortion increase.Age,times of abortion,and the autoimmunity antibody level of the women were the risk factors of their chromosome abnormalities,which should be paid attention to in clinic.