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

发布时间：2018-10-05 16:59

【摘要】：目的:探讨单核苷酸多态性芯片(SNP array)在唐氏筛查高风险孕妇胎儿染色体分析中的应用价值。方法:选取312例因唐氏筛查高风险的孕妇,行羊膜腔穿刺术后获得羊水,对羊水进行G显带核型分析和SNP array检测,比较核型分析与SNP array检测结果,并按年龄分组比较拷贝数变异(CNVs)的发生率差别。结果:核型分析和SNP array均准确发现2例21三体(0.64%),6例核型分析提示染色体平衡重组(1.92%)的样本经SNP array分析证实不存在重排片段重复或缺失。在303例核型正常的胎儿羊水细胞中,SNP array检测发现176例CNVs,其中良性CNVs 106例,临床意义不明确的CNVs(VOUS)61例,新发CNVs(de novo CNVs)9例,未发现已知的致病性CNVs。唐氏筛查高风险组与唐氏筛查高风险合并高龄组CNVs的分布差别无统计学意义(P0.05)。此外,本研究中首次报道14种CNVs。结论:SNP array可进一步确定核型分析的平衡易位是否存在染色体微缺失/重复。在核型正常的胎儿中,SNP array可检测出大量拷贝数异常,发现14种新的CNVs但现有数据库无法判断其临床意义,需进一步研究确认。此外,孕妇年龄对胎儿基因组中新发CNVs的发生率无明显影响。
[Abstract]:Objective: to evaluate the value of single nucleotide polymorphism chip (SNP array) (SNP (SNP array) in chromosome analysis of high risk pregnant women. Methods: after amniotic fluid was obtained from 312 pregnant women with high risk of screening for Down's disease, G-banding karyotype analysis and SNP array detection were performed on amniotic fluid. The results of karyotype analysis and SNP array test were compared. The incidence of copy number variant (CNVs) was compared by age group. Results: karyotype analysis and SNP array showed that 2 cases (0.64%) of trisomy 21 (0.64%) and 6 cases of chromosome balanced recombination (1.92%) were confirmed by SNP array analysis. Among 303 normal fetal amniotic fluid cells, 176 cases of CNVs, were detected by SNP array, including 106 cases of benign CNVs, 61 cases of CNVs (VOUS) with unclear clinical significance and 9 cases of new CNVs (de novo CNVs). No known pathogenicity CNVs. was found. There was no significant difference in the distribution of CNVs between the high risk group and the high risk group (P0.05). In addition, 14 CNVs. species were reported for the first time in this study. ConclusionSNP array can further determine the existence of chromosome microdeletion / duplication in the equilibrium translocation of karyotype analysis. SNP array can detect a large number of copy number abnormalities in normal fetal karyotype. Fourteen new CNVs can be found, but the existing database can not judge its clinical significance, which needs further study and confirmation. In addition, maternal age had no significant effect on the incidence of new CNVs in the fetal genome.
【作者单位】：中山大学附属第三医院产科;中山大学附属第三医院产科实验室;
【基金】：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(No.201400000004-4)
【分类号】：R714.5

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