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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 amniotic fluid cell karyotype analysis in prenatal diagnosis and related genetic counseling. Methods Amniotic fluid was used for amniocentesis for cell culture. After harvest of metaphase cells, G - banding was carried out for karyotype analysis. Results In 520 cases of amniotic fluid cell culture, 18 cases of abnormal chromosome karyotype were found, including 6 cases of chromosomal abnormalities, 3 cases of trisomy 21, 2 cases of 18 trisomy, 1 case of 13 trisomy, 3 cases of sex chromosome abnormalities, 3 cases of chimerism 3 cases. 19 cases of normal polymorphism karyotype. Conclusion It is necessary to analyze the karyotype of amniotic fluid cells in pregnant women with various prenatal diagnosis indications, which can effectively reduce the birth defect rate.