[1]李闪闪,张艳芳,谢丰华,等.CMA和核型分析在胎儿染色体异常诊断中的临床价值[J].现代检验医学杂志,2018,33(03):126-129.[doi:10.3969/j.issn.1671-7414.2018.03.032]
　LI Shan-shan,ZHANG Yan-fang,XIE Feng-hua,et al.Clinical Value of CMA and Karyotype Analysis in Diagnosis of Fetal Chromosomal Abnormalities[J].Journal of Modern Laboratory Medicine,2018,33(03):126-129.[doi:10.3969/j.issn.1671-7414.2018.03.032]
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CMA和核型分析在胎儿染色体异常诊断中的临床价值()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第33卷
期数:
2018年03期
页码:
126-129
栏目:
论著
出版日期:
2018-07-17

文章信息/Info

Title:
Clinical Value of CMA and Karyotype Analysis in Diagnosis of Fetal Chromosomal Abnormalities
文章编号:
1671-7414(2018)03-126-04
作者:
李闪闪1; 张艳芳2; 谢丰华2; 李冬秀2; 黄 湘2
1.南方医科大学第二临床医学院,广州 510000; 2.南方医科大学附属中山博爱医院产前诊断中心,广东中山 528400
Author(s):
LI Shan-shan1; ZHANG Yan-fang2; XIE Feng-hua2; LI Dong-xiu2; HUANG Xiang2
1.the Second School of Clinical Medicine,Southern Medical University, Guangzhou 510000,China; 2.Prenatal Diagnosis Center,Boai Hospital Affiliated to Southern Medical University,Guangdong Zhongshan 528400,China
关键词:
核型分析;  染色体微阵列分析;  染色体病;  产前诊断
分类号:
R394-33
DOI:
10.3969/j.issn.1671-7414.2018.03.032
文献标志码:
A
摘要:
目的 回顾性分析胎儿染色体微阵列分析(chromosomal microarray analysis,CMA)和核型分析的检测结果,评价两者诊断胎儿染色体异常的临床价值。方法 选取347例因超声异常、高龄、唐筛高风险及无创结果异常等选择有创CMA和核型分析的胎儿作为研究对象,对两者染色体结果进行分析以明确其临床价值。结果 CMA,核型分析的染色体异常检出率分别为10.95%和9.22%,相符率89.63%,两者染色体异常检出率差异无统计学意义(P=0.362); CMA能敏感地检出染色体微重复和微缺失,核型分析能更好地检出染色体平衡易位。结论 核型分析和CMA在染色体异常的检出中具有互补性,临床医生应合理地将CMA结合核型分析应用于有创产前诊断,以提高染色体异常检出率,减少新生儿出生缺陷。
Abstract:
Abstract:Objective To retrospective analyze the resultsof chromosome microarray(CMA)and karyotype in fetus,and evaluate their clinical value in diagnosing fetal chromosomal abnormalities.Methods CMA and karyotype analysis were performed in 347 invasive fetus samples due to abnormal ultrasound,elderly pregnancy,high risk of Down's screening andabnormal non-invasive results.CMA and karyotype results were further studied to clarify their diagnostic value.Results The chromosomalabnormality rates detected by CMA and karyotype analysis were 10.95% and 9.22%,respectively,the coincidence rate was 89.63%,and there was no statisticaldifference(P=0.362).CMA could detect microduplication and microdeletionof chromosomes sensitively,and karyotype analysis could better detect chromosome balance translocation.Conclusion Karyotype analysis and CMA complementarity in the detection of chromosomal abnormalities,cliniciansshould reasonably use CMA and karyotype analysis for invasive prenatal diagnosisto increase the detection rate of chromosomal abnormalities and reduce neonatalbirth defects effectively.

参考文献/References:

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备注/Memo

备注/Memo:
基金项目:中山市科技计划重大项目(2016B1009)。 作者简介:李闪闪(1992-),女,在读硕士研究生,研究方向:临床检验诊断学、产前诊断,E-mail:bbmclss@163.com。 通讯作者:黄 湘(1971-),女,医学博士,硕士生导师,主任技师,研究方向:免疫学、产前诊断,E-mail:340382761@qq.com。
更新日期/Last Update: 2018-04-16