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目的研究染色体多态性与女性不良妊娠的关系。方法对2013年1月以来在本院妇产科就诊的1048例女性遗传咨询者行外周血染色体核型分析。结果在1048例女性遗传咨询者中检出染色体多态性核型32例,占3.05%。根据多态性变异可主要归为下列3种类型:(1)D/G组随体增加共6例,占多态性的18.75%;(2)次缢痕增加(包括1号、9号、16号染色体)共8例,占多态性的25%;(3)9号染色体臂间倒位共18例,占多态性的56.25%。染色体多态性组的复发性流产发生率、早产率和生育畸形儿率明显高于正常对照组,差异有统计学意义(P<0.01)。在412例出生缺陷儿的女性遗传咨询者中检出染色体多态性核型22例,占5.34%;在838例胎发生过流产的女性遗传咨询者中检出染色体多态性核型28例,占3.34%;在364例胚胎发育停止的女性遗传咨询者中检出染色体多态性核型18例,占4.95%。结论染色体多态性与女性不良妊娠有密切关系,对有不良妊娠史的女性应进行外周血染色体检查。
Objective To study the relationship between chromosomal polymorphism and adverse pregnancy in women. Methods Peripheral blood karyotype analysis was performed on 1048 female genetic counselors attending obstetrics and gynecology department since January 2013 in our hospital. Results In 1048 female genetic counselors, 32 cases of chromosomal polymorphisms were detected, accounting for 3.05%. According to the polymorphism variation, it can be mainly classified into the following three types: (1) there are 6 cases with D / G group increasing, accounting for 18.75% of the total; (2) , Chromosome 16), a total of 8 cases, accounting for 25% of the polymorphisms; (3) 18 on the 9 chromosome inversion in arm, accounting for 56.25% of the polymorphisms. The incidence of recurrent spontaneous abortion, premature birth rate, and childbirth deformity in the chromosome polymorphism group were significantly higher than those in the normal control group (P <0.01). Totally, 22 cases of chromosome polymorphism karyotype were detected in 412 female genetic counselors with birth defects, accounting for 5.34%. Among 838 female genetic counselors with fetal abortion, 28 cases were detected with karyotype of chromosome polymorphism , Accounting for 3.34%. Of the 364 female genetic counselors who stopped the embryo development, 18 cases (4.95%) of chromosome karyotypes were detected. Conclusion Chromosome polymorphism is closely related to adverse pregnancy in women. Chromosome examination of peripheral blood should be performed on women with a history of adverse pregnancy.