羊水细胞染色体核型分析和微列阵比较基因组杂交技术验证无创产前检测的临床意义

发布时间：2018-03-29 02:21

本文选题：染色体核型分析　切入点：微列阵比较基因组杂交　出处：《实用妇产科杂志》2015年04期

【摘要】：目的:探讨羊水细胞染色体核型分析技术和微列阵比较基因组杂交技术(array-CGH)验证无创产前检测(NIPT)的临床意义。方法:对NIPT提示信号异常的95例孕妇行羊膜腔穿刺术,抽取羊水进行培养后行染色体核型分析验证其符合率;同时对提示除外21-三体、18-三体、13-三体的常染色体异常(即其他常染色体异常)的患者行array-CGH分析,验证其符合率。结果:NIPT提示21-三体高风险的染色体核型分析符合率86.96%(40/46);18-三体的染色体核型分析符合率76.92%(10/13);13-三体染色体核型分析符合率0(0/2)。性染色体核型分析的符合率50.00%(9/18),其中1例性染色体异常的染色体核型分析为46,XX,del(Xq23-25),行array-CGH验证,提示为X染色体该区带11.9 M的片段缺失。其他常染色体异常的染色体核型分析符合率12.50%(2/16),其array-CGH验证的符合率25.00(4/16)。结论:NIPT的结果需要验证,经典的羊水细胞染色体核型分析技术可以验证胎儿染色体数目和结构异常,array-CGH可以验证微缺失或者微重复,分辨率更高。
[Abstract]:Objective: to investigate the clinical significance of amniotic fluid chromosome karyotype analysis and microarray comparative genomic hybridization (CGH) in the verification of noninvasive prenatal detection (NIPT). Methods: amniocentesis was performed in 95 pregnant women with abnormal NIPT signals. The karyotype analysis of amniotic fluid was performed to verify the coincidence rate, and array-CGH analysis was performed for patients with autosomal abnormalities (i.e. other autosomal abnormalities) except for 21 trisomy 18 trisomy 13 trisomy. Results the coincidence rate of chromosome karyotype analysis for 21-trisomy high risk was 86.96 / 40 / 46 / 18-trisomy. The coincident rate of chromosome karyotype analysis was 76.92% 10 / 13 / 13 / 13 trisomic karyotype analysis. The coincidence rate of sex chromosome karyotype analysis was 50.000 / 9 / 18%. The karyotype analysis of one case of sex chromosomal abnormality was 46 xxxdelia Xq23-25, which was verified by array-CGH. The results suggest that the chromosome karyotype of other autosomal abnormalities is 12.50% / 16%, and the coincidence rate of array-CGH verification is 25.00% / 4 / 16%. Conclusion: the results of the chromosome karyotype analysis of the other autosomal abnormalities need to be verified. The classical chromosome karyotype analysis of amniotic fluid cells can verify that fetal chromosomes with abnormal number and structure can be verified by microdeletion or microrepetition with higher resolution.
【作者单位】：江苏省南京市妇幼保健院;
【基金】：国家自然科学基金(编号:81300495) 江苏省医学领军人才与创新团队项目(编号:LJ201109) 南京医科大学重点项目(编号:2011NJMU214)
【分类号】：R714.5

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