CNV检测在流产组织遗传学诊断中的临床应用

The Clinical application of CNV in genetic diagnosis of abortion tissue

目的比较染色体核型分析方法与染色体拷贝数变异(CNV)检测技术在流产组织遗传学诊断中的应用价值。方法2017年3月到2018年12月,在我院确诊为稽留流产患者201例,对流产组织进行绒毛染色体核型分析和CNV检测。结果(1)CNV检测成功率较高并且阳性检出率明显高于核型分析;(2)CNV检测与核型分析比较发现10例标本除染色体数目异常外还存在染色体片段的拷贝数变异,显示其在染色体亚显微结构上的检测优势;(3)CNV检测34例拷贝数变异共发现10个具有致病性,与早期流产相关,表明拷贝数变异也是早期流产及胚胎停止发育的重要原因;(4)流产绒毛组织染色体异常以数目异常为主,其中16三体占比最高,约为22.47%。结论CNV检测技术在染色体亚显微结构水平上具有明显优势,可以作为核型分析的补充手段在临床中广泛应用。

Objective:The application value of chromosome karyotype analysis and chromosome copy number variation(CNV)detection technology in the diagnosis of abortion tissue genetics was compared.Methods:From March 2017 to December 2018,201 cases with missed abortion were diagnosed in our hospital,and the abortion tissues were analyzed by villus chromosome karyotype analysis and CNV detection.Results:(1)The success rate of CNV detection was higher and the positive detection rate was significantly higher than that of karyotype analysis;(2)Compared with the karyotype analysis,CNV detection showed that the copy number variation of chromosome fragments existed in 10 specimens except for the abnormal number of chromosomes,indicating its superiority in the detection of chromosome submicroscopic structure;(3)Among the 34 copy number variations in CNV detection,10 were pathogenic and related to early abortion,indicating that copy number variation is also an important cause of early abortion and embryonic development;(4)The chromosomal abnormalities of aborted villus tissues were mainly abnormal,and the proportion of 16 trisomy was the highest,about 22.47%.Conclusion:CNV detection technology has obvious advantages in the level of chromosome submicroscopic structure,and can be widely used in clinical practice as a supplementary means of karyotype analysis.