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目的:研究分析运用CNVplex高通量多重基因拷贝数检测技术对早期自然流产患者胚胎绒毛组织的染色体数目检测的临床价值。方法:在早期自然流产患者中随机抽取20例为研究对象,用CNVplex高通量多重基因拷贝数检测技术对患者胚胎绒毛组织的13号染色体、18号染色体、21号染色体及性染色体数目进行快速检测。结果:通过CNVplex技术与染色体核型分析技术的对比,20例中有2例由于细胞培养失败而无法进行核型分析,其他18例用两种方法检测出的结果一致;其中检测出染色体数目异常的有12例,占总比的60%。结论:CNVplex技术在自然流产胚胎绒毛组织的染色体数目异常诊断中具重要价值,为产前筛查及流产儿病因确认提供临床参考。
OBJECTIVE: To study the clinical value of CNVplex high-throughput multiplex gene copy number detection in the detection of chromosome number of embryo villus in patients with early spontaneous abortion. Methods: Totally 20 cases of spontaneous abortion were randomly selected from the patients with CNVplex high-throughput multiplex gene copy number detection of chorionic tissue on chromosome 13, chromosome 18, chromosome 21 and sex chromosome number fast Detection. Results: Comparing the CNVplex technique with the karyotype analysis, two out of 20 cases failed karyotyping because of cell culture failure. The other 18 cases detected the same result by two methods. Among them, the number of chromosomal abnormalities was detected There are 12 cases, accounting for 60% of the total. Conclusion: The CNVplex technique is of great value in the diagnosis of abnormal chromosome number in the chorionic villi of spontaneous abortion. It provides a clinical reference for prenatal screening and confirmation of the etiology of abortion.