广州地区羊水染色体核型分析的产前诊断及相关遗传咨询

Significanceof chromosomal karyotype analysis of amniotic fluid cells and related genetic counseling

目的探讨羊水细胞染色体核型分析在产前诊断中的意义及其相关的遗传咨询。方法羊膜腔穿刺术抽取羊水进行细胞培养,收获中期细胞后制片,常规G显带,进行核型分析。结果在520例羊水细胞培养病例中发现异常染色体核型18例,其中染色体结构异常6例,21三体3例,18三体2例,13三体1例,性染色体异常3例,嵌合体3例。正常多态性核型19例。结论对具有各种产前诊断指征的孕妇进行羊水细胞染色体核型分析是十分必要的,可有效降低出生缺陷率。

Objective ： To investigate the significance of the amniotic fluid cells karyotype analysis in the prenatal diagnosis and related genetic counseling. Methods： The amniotic fluid samples were collected by amniocentesis and cultured. Metaphase ceils were harvested for preparation, and then chromosomal karyotype analysis was conducted after G- banding. Results： 18 fetuses with abnormal karyotype in analyzing 520 fetal amniotic fluid cells were observed. In the 18 cases abnormal karyotype, we found 6 cases of structural abnormalities, 3 cases of 21 trisomy, 2 cases of 18 trisomy, 1 case of 13 trisomy, 3 cases of sex chromosomal abnormalities and 3 cases of mosaicism. We still found 19 cases with polymorphism karyotype in analyzing 520 fetal amniotic fluid ceils. Conclusion： It is very necessary to analyze karyotype on amniotic fluid cells for pregnant women with various indications of prenatal diagnosis, and it can effectively reduce the incidence of birth defect.