生殖医学杂志2017，Vol.26Issue(9)：863-868,6.DOI:10.3969/j.issn.1004-3845.2017.09.003
308例高危妊娠产前诊断CMA技术发现不明确拷贝数变异的结果分析
Analysis of variations with clinically unambiguous significance in prenatal CMA for 308 patients with high-risk pregnancy
摘要
Abstract
Objective:To explore the application of chromosomal microarray analysis (CMA) in the patients with high-risk pregnancy.Methods:A total of 308 patients with high-risk pregnant who were admitted to Peking Union Medical College Hospital for prenatal diagnosis,and detected by CMA and karyotype analysis from Jan.1 2014,to Jun.1 2017 were recruited in this study.The CMA results were analyzed and compared with the karyotyping,and the composition and the characteristics of the various clinical unambiguous significances (VOUS) were also analyzed.Results:A large proportion (88.0％) of the patients was abnormal in fetal structure or soft marker,and had fetal growth restriction or fetal edema.Whole genome detection did not reveal a clear chromosome copy number change (CNV) or clear polymorphic changes in 217 patients (70.5％),and 44 patients (14.3％) were identified with pathological CNV.Among them,21 patients had chromosomal aneuploidy abnormalities,6 patients abnormal sex chromosome number,17 patients chromosome pathogenic CNV.In addition,47 patients had various clinical unambiguous significances of CNV results (15.3％).Among them,23 patients were likely benign,and 21 patients were truly clinical unambiguous significance.There was one patient with loss of heterozygous (LOH) and three patients with likely pathogenic.This study also further analyzed the distribution of fragment size and the type of interpretation based on VOUS in the patients.The positive rate of chromosome abnormality by CMA was 14.2％,compared with 10.7％ of the positive rate of karyotyping,and the positive rate increased by 3.5％.Conclusions:The diagnostic efficiency of genome-wide chromosome microarray chip for fetal structural abnormality is higher than that of karyotype analysis.However,there was also difficulty in the proper genetic counseling for VOUS.At present,the proportion of domestic prenatal diagnosis of clinical unambiguous significance is high,which is related to the low level of local database,lack of domestic specific microarray results interpretation criteria.关键词
产前诊断/染色体拷贝数变异/高危妊娠/染色体微阵列分析/胎儿超声结构异常Key words
Prenatal diagnosis/Copy number variation/High-risk pregnancy/Chromosome microarray analysis/Fetal ultrasound abnormality引用本文复制引用
蒋宇林,刘俊涛,戚庆炜,孟华,周希亚,郝娜,徐钟慧,白俊杰,欧阳云淑,张一休..308例高危妊娠产前诊断CMA技术发现不明确拷贝数变异的结果分析[J].生殖医学杂志,2017,26(9):863-868,6.基金项目
“十二五”国家科技支撑计划项目(2014BAI06B05) （2014BAI06B05）
