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目的对遗传染色体病高危人群进行外周血染色体核型分析。方法选取高危的遗传咨询人员335例,进行外周血培养,细胞收获制片,G显带核型分析。结果 335例有染色体病高危因素的遗传咨询者中检查出染色体异常112例,占33.4%,染色体异常患者中,唐氏综合征所占比例最高39例(35%)。结论对遗传染色体病高危人群进行染色体检查意义重大。在染色体异常中尤其以唐氏综合征比例最高,在我地区全面开展产前筛查与产前诊断工作更显意义重大。
Objective To analyze the karyotypes of peripheral blood in high-risk population of genetic chromosome disease. Methods A total of 335 high-risk genetic counselors were selected for peripheral blood culture, cell harvest production and G-band karyotype analysis. Results One hundred and thirteen cases of chromosomal abnormalities were found in 335 cases of genetic counseling who were at high risk of chromosomal diseases. Among the chromosomal abnormalities, the highest proportion of Down Syndrome was 39 cases (35%). Conclusion It is of great significance to carry out chromosome examination on high risk population of genetic chromosome disease. Especially in chromosomal abnormalities, the highest proportion of Down Syndrome in our region to conduct a comprehensive prenatal screening and prenatal diagnosis is even more significant.