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目的对胎儿患有某些染色体疾病进行产前诊断,降低出生缺陷。方法对孕18-26周孕妇进行羊膜腔穿刺抽取羊水,做羊水细胞培养,并分析染色体核型。结果 481例孕妇,羊水培养成功477例,成功率99.16%,发现25例染色体异常,占5.19%,其中染色体数目异常4例,性染色体数目异常1例,嵌合体1例,平衡易位3例,其它结构异常16例。结论孕中期羊水细胞培养及染色体核型分析,不仅能及时发现胎儿染色体异常,而且能为孕妇是否继续妊娠提供科学依据,有利于降低出生缺陷发生率。
Objective To prenatal diagnosis of certain chromosomal diseases in fetuses and to reduce birth defects. Methods Amniocentesis was performed on 18-28 weeks old pregnant women for amniotic fluid culture and amniotic fluid cell culture. The karyotype of chromosomes was analyzed. Results 481 pregnant women, 477 cases of amniotic fluid culture success, the success rate of 99.16%, found 25 cases of chromosomal abnormalities, accounting for 5.19%, of which 4 cases of chromosomal abnormalities, abnormal chromosomal abnormalities in 1 case, chimerism in 1 case, balanced translocation in 3 cases , Other structural abnormalities in 16 cases. Conclusions The second trimester amniotic fluid cell culture and karyotype analysis can not only find out fetal chromosomal abnormalities in time, but also provide a scientific basis for pregnant women to continue pregnancy, which will help to reduce the incidence of birth defects.