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目的了解不良孕产史患者染色体异常发生情况,为孕前遗传咨询提供科学依据。方法 2007年-2010年对2419例不孕、不育、自然流产、死胎、死产、或有智力障碍、发育迟缓等患儿生育史的孕前保健对象进行外周血染色体核型分析。结果 2419例中异常染色体189例,异常核型比例为7.81%(189/2419)。男性1295例中异常染色体140例,女性1176例中异常染色体47例,男性染色体异常占检出异常核型总数的74.07%(140/189),远高于女性24.87%(47/189)。男性异常染色体中,性染色体数目和结构异常27例,性染色体多态中大Y25例,小Y32例;常染色体数目和结构异常36例,常染色体多态31例;女性异常染色体中,性染色体数目和结构异常17例;常染色体数目和结构异常17例,常染色体多态13例;有2例社会性别为女性,而核型为46,XY的女性性反转病例。结论染色体病在孕前保健对象中尤其是不孕、不育、自然流产、死胎、死产或有智力障碍、发育迟缓等患儿生育史的目标人群中有一定的发生率。所以在孕前保健风险筛查和评估时必须发现育龄夫妇的这一些风险因素,并进行染色体检查,排除染色体异常。
Objective To understand the occurrence of chromosomal abnormalities in patients with unhealthy history of pregnancy and provide a scientific basis for genetic counseling before pregnancy. Methods From 2007 to 2010, the karyotypes of peripheral blood were analyzed in 2419 pregnant women with infertility, infertility, spontaneous abortion, stillbirth, stillbirth or children with mental retardation and stunting. Results There were 189 cases of abnormal chromosomes in 2419 cases, the proportion of abnormal karyotype was 7.81% (189/2419). There were 140 abnormal chromosomes in 1295 males and 47 abnormal chromosomes in 1176 females. Male chromosomal aberrations accounted for 74.07% (140/189) of the total number of abnormal karyotypes detected, which was much higher than that of females (47.89%). There were 27 sex chromosome abnormalities and structural abnormalities in male abnormal chromosomes, 32 cases of Y25 and Y34 in sex chromosome polymorphism, 36 cases of autosomal number and structural abnormalities, 31 cases of autosomal polymorphism, Number and structural abnormalities in 17 cases; autosomal number and structural abnormalities in 17 cases, autosomal polymorphism in 13 cases; 2 cases of gender female, while the karyotype of 46, XY cases of female sexual inversion. Conclusions Chromosomal diseases have a certain incidence in pre-pregnancy health care subjects, especially in the target population of children with infertility, infertility, spontaneous abortion, stillbirth, stillbirth or mental retardation and stunting. Therefore, pre-pregnancy health risk screening and assessment must be found in couples of childbearing age these risk factors, and chromosomal examination to rule out chromosomal abnormalities.