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

Application of Chromosomal Microarray Analysis for Chromosomal Abnormalities of Spontaneously Aborted Fetuses

中文关键词:  染色体微阵列分析 自然流产 染色体异常

英文关键词:Chromosomal microarray analysis Spontaneous abortion Chromosomal abnormalities

中文摘要:

      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。

英文摘要:

      【Abstract】 Objective To evaluate the clinical significance of chromosomal microarry analysis (CMA) for detection of chromosomal abnormalities in spontaneously aborted fetuses. Methods Chorionic villi samples from 431 spontaneously aborted fetuses were detected on the chromosomal abnormalities by CMA in our department form September 2014 to April 2016. Results The overall success rate of CMA was 100%, and 283 cases were detected with abnormalities (65.67%). Of these 283 cases with abnormal results, 126 were common aneuploidies (trisomy 13, 16, 18, 21, 22 as well as X and Y aneuploidies) (44.52%), 72 were uncommon aneuploidies (25.44%), 10 were composited aneuploidies (3.53%), 9 were partial aneuploidies (3.18%)，29 were polyploidy (10.25%), 4 were mosaicism (1.41%), 31 were with multiple duplications and deletions (10.96%), and 2 were microduplication/microdeletion syndromes. Conclusion CMA has great advantage for the detection of chromosomal abnormalities in spontaneously aborted fetuses comparing with fluorescence in situ hybridization (FISH). It is of great clinical significance for etiological diagnosis of spontaneous abortion and guidance on reproduction.