中国病理生理杂志Issue(4)：707-712,6.DOI:10.3969/j.issn.1000-4718.2015.04.024
单核苷酸多态性芯片与染色体核型分析在唐氏筛查高风险孕妇产前诊断中的比较研究
Comparison between single nucleotide polymorphism array and karyoty-ping in prenatal diagnosis in Down’ s screening abnormal pregnancy
摘要
Abstract
[ ABSTRACT] AIM:To evaluate the clinical application of single nucleotide polymorphism array ( SNP array) in prenatal diagnosis for screening the abnormality of women with Down’ s syndrome ( DS) .METHODS:The amniotic fluid samples ( n=312) collected by amniocentesis for the DS screening abnormality women were tested by karyotyping and SNP array analysis, respectively.The findings of karyotyping and SNP array analysis were compared.RESULTS:Two cases of trisomy 21 were identified by karyotyping and SNP array analysis, but SNP array analysis failed to identify 6 cases of chro-mosome balanced structural rearrangement.SNP detected 176 cases copy number variants ( CNVs) in 303 cases normal karyotype were detected by SNP, including 106 benign CNVs, 61 variants of unknown significance (VOUS), 9 de novo CNVs, and none of them was pathogenic.The distribution difference of CNVs in DS screening positive group and DS screening positive plus advanced maternal age group was not statistically significant ( P>0.05) .Furthermore, we reported 14 kinds of CNVs for the first time in population.CONCLUSION:SNP array can further assure chromosome microdupli-cation/microdeletion.In normal karyotype fetus of prenatal diagnosis, SNP can detect some clinical significant CNVs.关键词
单核苷酸多态性芯片/染色体核型分析/拷贝数变异/产前诊断Key words
Single nucleotide polymorphism array/Karyotyping/Copy number variants/Prenatal diagnosis分类
医药卫生引用本文复制引用
白小艺,章钧,田琪,林俊伟,侯红瑛..单核苷酸多态性芯片与染色体核型分析在唐氏筛查高风险孕妇产前诊断中的比较研究[J].中国病理生理杂志,2015,(4):707-712,6.基金项目
广东省科技计划（No．2009B060700107）；中山大学达安基因股份有限公司广州市医学诊断技术和产品创新及应用协同创新重大专项合作费 （）
