染色体微阵列分析在检测自然流产胚胎染色体异常中的应用

发布时间：2018-09-18 17:32

【摘要】：目的探讨染色体微阵列分析(chromosomal microarry analysis,CMA)技术在诊断自然流产胚胎染色体异常的临床应用价值。方法用CMA技术对我院2014年9月至2016年4月共431例自然流产胚胎绒毛组织染色体进行检测。结果 431例标本CMA检测全部成功,检出染色体异常标本283例,异常率为65.66%。异常标本中常见的染色体非整倍体(13、16、18、21、22三体及性染色体数目异常)126例(44.52%),不常见的染色体非整倍体72例(25.44%),染色体复合三体10例(3.53%),染色体部分非整倍体9例(3.18%),多倍体29例(10.25%),嵌合体4例(1.41%),全染色体多处重复缺失31例(10.95%),微缺失/微重复综合征2例(0.71%)。结论 CMA技术与传统的荧光原位杂交(fluorescence in situ hybridization,FISH)等技术相比,在针对流产胚胎染色体异常检测中的优势明显,对自然流产病因诊断、再次妊娠指导具有重要意义。
[Abstract]:Objective to evaluate the value of chromosome microarray analysis (chromosomal microarry analysis,CMA) in the diagnosis of chromosomal abnormalities in spontaneous abortion embryos. Methods from September 2014 to April 2016, chromosomes in villi of 431 embryos with spontaneous abortion were detected by CMA technique. Results all the 431 specimens were detected successfully by CMA, and 283 cases of chromosomal abnormalities were detected, the abnormal rate was 65.66%. There were 126 cases (44.52%) of abnormal chromosome aneuploidy, 72 cases (25.44%) of unusual chromosome aneuploidy, 10 cases (3.53%) of chromosome complex, 9 cases (3.18%) of partial aneuploidy and 29 cases (29%) of polyploid. There were 4 cases (1.41%) of chimerism, 31 cases (10.95%) of multiple deletions and 2 cases (0.71%) of microdeletion / microduplication syndrome. Conclusion compared with the traditional fluorescence in situ hybridization (fluorescence in situ hybridization,FISH) technique, CMA technique has obvious advantages in the detection of chromosomal abnormalities in abortive embryos, which is of great significance for the diagnosis of spontaneous abortion and the guidance of pregnancy.
【作者单位】：四川大学华西第二医院妇产科;出生缺陷与相关妇儿疾病教育部重点实验室(四川大学);
【基金】：国家自然科学基金(No.81270660) 四川省科技厅科技支撑计划项目(No.2012SZ0136)资助
【分类号】：R714.21

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