不良孕产史夫妇的染色体异常与多态性分析

Chromosome Abnormality and Polymorphism Analysis among Couples with Adverse Pregnancy History

目的:分析不良孕产史夫妇的染色体异常和染色体多态性检测结果,为不良孕产史患者提供遗传咨询。方法:2011年1月至2016年6月,在我院妇产科咨询的2 040对(4 080例)不良孕产史夫妇,遗传咨询者取外周血行淋巴细胞培养,进行G显带染色体核型分析。结果:4 080例不良孕产史夫妇中,共计检测出664例染色体异常,染色体异常检出率为13.2%(664/4 080)。664例染色体异常患者中,习惯性流产或胚胎停育390例,占59.7%(390/664);染色体异常儿孕产史154例,占23.1%(154/664);畸胎史48例,占7.2%(48/664);其他72例,占10.8%(72/664)。664例染色体异常中,包括178例染色体数目或结构异常,包括性染色体数目异常45例,染色体平衡易位66例,罗伯逊易位24例,染色体倒位15例,染色体增加9例,染色体重复8例,染色体缺失5例,标记染色体6例。还有486例染色体多态性,其中1号、9号、16号和Y染色体次缢痕增加共计322例,9号染色体倒位110例,以及34染色体随体柄增加,20例染色体随体增加。结论:夫妇双方染色体异常是导致不良孕产史的重要的遗传学因素,同时应注意染色体多态性对不良孕产史的影响。

Objective ：To analyse the chromosome abnormality and chromosome polymorphism testing results of the cou- ples with adverse pregnancy history and to provide genetic counseling to the patients with adverse pregnancy history. Methods：The peripheral blood of 4 080 cases with adverse pregnancy history, who were genetic consultants of the depart- ment of obstetrics and gynecology of Beihai Maternity and Child Health-care Hospital from January 2011 to June 2016, was collected to culture lymphocyte and performed G banding karyotype analysis. Results：Of the 4 080 cases with ad- verse pregnancy history, 664 cases were detected as abnormal chromosome; the chromosome abnormality detection rate was 13.2% （664/4 080）. Among 664 patients with chromosome abnormality, there were 390 cases of habitual abortion or embryo damage, accounting for 59.7% （390/664） ; 154 cases of chromosomal abnormalities gestation and birth, accounting for 23.1% （154/664） ; 48 cases of monster teras history, accounting for 7.2% （48/664） ; Others 72 cases, accounting for 10.8% （72/664）. Of 664 cases of chromosomal abnormalities, there were 178 cases abnormal chromo- some number or structure, 45 cases of abnormal number of sex chromosomes, 66 cases of chromosome balanced transloca- tion, 24 cases of robertsonian translocation, 15 cases of chromosome inversion, 9 cases of chromosome increase, 8 cases of chromosome duplication, 5 cases of chromosome deletion, and 6 cases of chromosomes markers. There were 486 cases of chromosome polymorphism, 322 cases of No. 1,9, 16, and Y chromosome secondary constriction increase, 110 cases of chromosome 9 inversion, and 34 cases of chromosomes increased with the stem and 20 cases of chromosomes increased with the body. Conclusions： Chromosome abnormality is one of the important genetic causes to the adverse pregnancy history, and the chromosome polymorphism of adverse pregnancy history should be noted.