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目的分析宜昌地区羊水染色体核型,总结宜昌地区羊水细胞染色体核型异常核型出现的类型、发生率及相关影响因素,为产前诊断提供依据。方法对产前筛查高危孕妇进行羊水穿刺、细胞培养、染色体制备、G显带以及核型分析。结果羊水细胞培养成功率为99.1%(427/431),发现异常核型25例,异常检出率为5.9%(25/427)。其中,21-三体7例,18-三体3例,13-三体1例,46,XX[16]/47,XX+mar[2];47,XXY;46,XY[1]/47,XXY[24];46,XX[7]/47,XXX[1];46,XXq-[14]/45,XO[6];45,XO;46,XN inv(9)各1例,染色体多态7例。结论宜昌地区产前筛查高危孕妇羊水细胞染色体核型异常检出率较高,主要为常见的三体综合症,性染色体异常及染色体多态。其中,21-三体发生率和染色体多态较高,性染色体异常次之。
Objective To analyze the amniotic fluid karyotypes in Yichang, and to summarize the types, incidences and related factors of karyotype abnormalities in amniotic fluid cells in Yichang, and to provide basis for prenatal diagnosis. Methods Amniotic fluid puncture, cell culture, chromosome preparation, G - banding and karyotype analysis of prenatal screening high risk pregnant women were performed. Results The success rate of amniotic fluid cell culture was 99.1% (427/431). The abnormal karyotype was found in 25 cases and the rate of anomaly detection was 5.9% (25/427). Among them, 7 cases of 21-trisomy, 3 cases of 18-trisomy, 1 case of 13-trisomy, 46, XX [16] / 47, XX + mar [2]; 47, XXY; 46, XY [1] / 46, XX [7] / 47, XXX [1]; 46, XXq- [14] / 45, XO [6]; 45, XO; 46, XN inv (9) , Chromosome polymorphism in 7 cases. Conclusion The detection rate of amniotic fluid cell chromosome abnormalities in prenatal screening high risk pregnant women in Yichang is high, which is mainly common trisomy syndrome, sex chromosome abnormalities and chromosome polymorphisms. Among them, the incidence of 21-trisomy and chromosome polymorphism is high, followed by sex chromosome abnormalities.