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目的:探讨绒毛细胞染色体制备的最佳方法及其临床意义。方法:112例早期绒毛细胞分别采用直接法或培养法制备染色体,并进行染色体核型分析。结果:在112例绒毛细胞染色体核型中,绒毛染色体异常38例(33.9%);常见异常核型为染色体数目异常26例,占异常核型68.4%,其中三体16例,占异常核型42.1%,单体和三倍体各5例,各占异常核型13.2%;嵌合体2例,占异常核型5.3%;结构异常10例,占异常核型26.3%。结论:先兆流产、自然流产与染色体异常的发生有直接关系,染色体检查对查找自然流产的原因和选择合理的治疗有重要的临床意义。绒毛细胞染色体检查培养法优于直接制备法,可在临床中广泛推广。
Objective: To investigate the best method of chromosomal preparation of villus cells and its clinical significance. Methods: One hundred and twelve cases of early villi cells were prepared by direct method or culture method, respectively. Chromosomes were analyzed by karyotype analysis. Results: Chromosome aberration in villus chromosome was abnormal in 38 cases (33.9%) in 112 cases of chorionic villus. The common abnormal karyotype was abnormal chromosome number in 26 cases, accounting for 68.4% of abnormal karyotype, including 16 cases of trisomy, accounting for abnormal karyotype 42.1%, 5 cases of haploid and triploid, accounting for 13.2% of all abnormal karyotypes; 2 cases of chimerism, accounting for 5.3% of abnormal karyotypes; 10 cases of structural abnormalities, accounting for 26.3% of abnormal karyotypes. Conclusion: Threatened abortion and spontaneous abortion are directly related to the occurrence of chromosomal abnormalities. Chromosome examination has important clinical significance for finding out the causes of spontaneous abortion and choosing appropriate treatment. Chorionic villus chromosome examination and culture method is better than the direct preparation method, which can be widely promoted in clinic.