摘要
目的:对有不良孕产史的夫妇进行染色体核型分析,探讨不良妊娠结局与染色体异常之间的关系,为再次妊娠提供遗传咨询。方法:对1 169对有不良孕产史的夫妇,采集静脉血,经淋巴细胞培养、常规收获中期分裂像,低渗、固定、制片、Giemsa染色后在显微镜下进行核型分析。结果:在1 169对2 338例患者中检出异常核型95例,50例为女性,45例为男性,异常率为4.06%。染色体数目异常3例,异常率为0.13%;结构异常92例,异常率为3.93%,其中平衡易位34例、罗伯逊易位10例、倒位27例、部分重复2例、染色体多态性变异18例、双着丝粒染色体1例,不同流产次数及性别之间染色体核型异常率无差异。结论:染色体异常是导致不良妊娠结局的重要原因,不同流产次数及性别之间,染色体异常率无差异,有不良孕产史的夫妇应进行双方细胞遗传学检查,染色体核型异常的夫妇再次妊娠应进行遗传咨询及产前诊断以降低染色体异常患儿的出生率。
Objective：To analyze chromosomal karyotypes of the couples with adverse pregnancy history,explore the relationship between adverse pregnancy outcome and chromosomal abnormality,provide genetic consultation for secondary pregnancy. Methods：The venous blood samples of 1 169 couples with adverse pregnancy history were obtained,then the lymphocytes were cultured,metaphase was gained,after hypotonicity,fixation,preparation of sections and Giemsa staining,karyotype analysis under microscope was carried out. Results：Among 2 338 cases（1 169 couples）,95 cases were found with abnormal karyotype,including 50 women and 45 men,the abnormal rate was 4.06%.3 cases were found with numerical abnormality of chromosomes,the abnormal rate was 0.13%.92 cases were found with structural abnormality of chromosomes,the abnormal rate was 3.93%,including 34 cases with balanced translocation,10 cases with Robertsonian translocation,27 cases with inversion,2 cases with partial repetition,18 cases with mutation of chromosomal polymorphism and 1 case with dicentric chromosome,there was no significant difference in the abnormal rate of chromosomal karyotype between the cases with different times of abortion and different genders. Conclusion：Chromosomal abnormality is an important reason of adverse pregnancy outcome,there is no significant difference in the rate of chromosomal abnormality between the cases with different times of abortion and different genders,the couples with adverse pregnancy outcome should both receive cytogenetical examination,and the couples with abnormal chromosomal karyotype should receive genetic consultation and prenatal diagnosis to reduce the birth rate of infants with chromosomal abnormality when the couples get secondary pregnancy.
出处
《中国妇幼保健》
CAS
北大核心
2011年第35期5572-5574,共3页
Maternal and Child Health Care of China
关键词
不良孕产史
细胞遗传学
染色体异常
Adverse pregnancy history
Cytogenetics
Chromosomal abnormality
