1320对不良孕产史夫妇的细胞遗传学分析

目的利用染色体核型分析技术,探讨不良孕产史与异常染色体核型之间的关系,为再次妊娠提供产前咨询。方法对1320对有不良孕产史的夫妇,抽取静脉血,经淋巴细胞培养、常规收获中期分裂像、Giemsa染色后在显微镜下进行核型分析。结果在1320对2640例患者中检出异常核型107例,异常率为4.05%;染色体数目异常8例,异常率为0.30%;结构异常99例,异常率为3.75%,其中平衡易位42例、罗伯逊易位18例、染色体多态性20例、倒位27例。有906对夫妇1812例患者因流产而就诊,占总研究对象的68.6%。通过分析,不同流产次数之间染色体异常率差异无统计学意义（P〉0.05）。结论染色体异常是导致流产、死胎、胎儿畸形等疾病的重要原因之一,有不良孕产史的夫妇应进行产前咨询并常规进行细胞遗传学检查,染色体核型异常的夫妇再次妊娠时应进行产前诊断以降低染色体异常患儿的出生率。

Cytogenetical analysis of 1320 couples with histories of abnormal pregnancy

Objective To explore the relationship between the histories of abnormal pregnancy and chromosomal abnormality by using karyotype analysis technology in order to provide genetic consultation for secondary pregnancy.Methods The venousblood samples of 1 320 couples with the histories of abnormal pregnancy were obtained,and then the lymphocytes were cultured,metaphase were gained,karyotypes were analyzed under microscope after Giemsa staining.Results Among 2 640 cases(1 320 couples),there were 107 cases were found with abnormal karyotype,the abnormal rate was 4.05%.There were 8 cases were found with numerical abnormality of chromosomes,the abnormal rate was 0.30%;99 cases were found with structural abnormality of chromosomes,the abnormal rate was 3.75%,including 42 cases with balanced translocation,18 cases with robertsonian translocation,20 cases with chromosomal polymorphism,27 cases with inversion.There were 906 couples(1 812 cases) came to hospital because of abortion,the rate was 68.6%.There was no significant difference in the abnormal rate of chromosomal karyotype in different times of abortion and different genders(P > 0.05).Conclusion Chromosomal abnormality is an important reason to lead to some diseases such as abortion,stillbirth and fetal malformation and so on,the couples with adverse pregnancy outcome should both receive genetic consultation and have prenatal diagnosis,the couples with chromosomal abnormality who get secondary pregnancy should have prenatal diagnosis to reduce the birth rate of infants with chromosomal abnormality.