摘要
目的探讨联合多重连接探针扩增技术(MLPA)和染色体微阵列分析技术(CMA)在颈项透明层增厚胎儿病因诊断中的应用。方法对35例NT≥3.0 mm的胎儿样本进行病因学分析,采用MLPA技术对染色体非整倍体和常见微缺失综合征进行快速分子学诊断,G显带核型分析验证,对MLPA检测阴性的样本进一步行CMA。结果 35例样本进行了MLPA分析,检出染色体非整倍体14例、非平衡结构异常3例,与G显带核型分析一致。21例非整倍体以外的病例进一步行CMA,7例发现染色体微重复/微缺失。联合MLPA和CMA检测共发现19例NT增厚的病因,其中MLPA检出17例,进一步CMA检出2例,MLPA占89.5%(17/19)。结论 MLPA可应用于染色体非整倍体的快速产前诊断,联合MLPA和CMA是诊断胎儿NT增厚病因的一种可行的检测策略。
Objective To investigate the etiology for fetuses with increased nuchal translucency（ NT） by multiplex ligation-dependent probe amplification（ MLPA） and chromosome microarray analysis（ CMA）. Methods 35 cases of fetuses with increased NT（ ≥3. 0 mm） were assessed with MLPA for making a rapidly diagnosis of aneuploid abnormalities and common microdeletions,with G-band for karyotype analysis and verification,proceed with CMA if there is no finding in MLPA. Results 35 samples were investigated by MLPA,14 cases of aneuploid,3 cases of unbalanced chromosomal abnormalities were detected,and the results were conformed with G-band karyotype analysis. 21 cases were supplemented with CMA,microdeletion/microduplication were found in 7 cases. The etiology was confirmed in 19 cases,including 17 cases by MLPA and 2 cases by CMA. The detection rate was 89. 5%（ 17/19）. Conclusion MLPA provide a rapid diagnosis for aneuploid abnormalities with increased NT fetuses,so MLPA supplemented with CMA is an acceptable strategy for fetuses with increased NT.
出处
《中国卫生检验杂志》
CAS
2017年第17期2441-2444,共4页
Chinese Journal of Health Laboratory Technology
基金
2014年深圳市科创委基础研究项目(JCYJ20140414-090541803)
2017年深圳市科技计划项目(JCYJ20170-307171743182)
关键词
颈项透明层增厚
多重连接探针扩增技术
染色体微阵列分析
Increased nuchal translucency
Multiplex ligation-dependent probe amplification technique
Chromosome microarray analysis
作者简介
林胜谋（1978-），男，硕士，副主任医师，主要从事产前诊断工作。
通讯作者：谢建生，E-mail：jianshengxie2000@aliyun．com
