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目的分析160对胚胎停育夫妇外周血染色体及部分绒毛染色体核型,探讨胚胎停育与染色体核型异常的关系。方法采集2013年至2016年160对胚胎停育夫妇的临床资料,抽取夫妻双方外周血,G显带制备外周血染色体核型。依160对夫妇意愿,对其中的32对夫妇进行绒毛染色体核型分析。结果 320例胚胎停育夫妇中检测出染色体异常的17例(5.3%),其中平衡易位11例,占异常核型的64.7%;倒位3例,占异常核型的17.6%;嵌合体1例,占异常核型的5.9%;缺失1例,占异常核型的5.9%;重复1例,占异常核型的5.9%。多态性变异35例(10.9%)。在培养成功的31例绒毛染色体核型中,染色体异常15例,总异常率48.4%。在异常绒毛15例中染色体数目异常10例(66.7%),嵌合体2例(13.3%),结构异常3例(20.0%)。3例结构异常绒毛染色体中有2例父母一方染色体核型异常。结论染色体异常是造成胚胎停育的重要因素,根据染色体检查结果可对胚胎停育患者再孕前进行遗传咨询和指导,实现优生优育。
OBJECTIVE: To analyze the relationship between chromosomal and chromosomal karyotypes in peripheral blood of 160 pairs of embryos and the relationship between chromosomal karyotype abnormalities and suspension of embryos. Methods A total of 160 pairs of embryos were collected from 2013 to 2016. Peripheral blood was collected from both husband and wife and G-banding was used to prepare peripheral blood karyotypes. According to the wishes of 160 couples, 32 of them were choroid karyotype analysis. Results Among the 320 offspring of embryos, 17 cases (5.3%) had detected chromosomal abnormalities, among which 11 cases were balanced translocations, accounting for 64.7% of the abnormal karyotypes; 3 cases were inverted, accounting for 17.6% of the abnormal karyotypes; 1 cases accounted for 5.9% of abnormal karyotype; 1 case of deletion, accounting for 5.9% of abnormal karyotype; 1 case of repeat, accounting for 5.9% of abnormal karyotype. 35 cases of polymorphic variation (10.9%). Among the 31 karyotypes of chorionic villi cultured successfully, 15 had chromosomal abnormalities with a total abnormality rate of 48.4%. There were 10 cases (66.7%) of chromosomal abnormalities, 2 cases of chimerism (13.3%) and 3 cases of structural abnormalities (20.0%) in 15 cases of abnormal hair. 3 cases of structural abnormalities Chromosome 2 cases of parental chromosome abnormalities. Conclusion Chromosomal abnormalities are the important factors that lead to the suspension of embryos. Based on the results of chromosome examination, genetic counseling and guidance can be carried out on the patients with embryo stop before re-pregnancy to achieve prenatal and postnatal care.