孕妇尿液cfDNA产前检测胎儿21-三体可行性研究  

The feasibility analysis of prenatal testing of fetal trisomy 21 using cfDNA in the urine of pregnant women

作　　者：胡芙蓉[1] 苗正友[2] 宋勤浩[2] 周赤燕[2] 

机构地区：[1]浙江省嘉兴市第一医院检验科,嘉兴314000 [2]浙江省嘉兴市妇幼保健院产前诊断中心,嘉兴314000

出　　处：《中国优生与遗传杂志》2015年第11期10-12,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的本文旨在探讨利用大规模平行测序(MPS)技术对孕妇尿液中的游离DNA(cf DNA)进行胎儿21-三体(T21)无创产前检测的可行性。方法本研究选取10个胎儿羊膜穿刺核型分析结果正常和9个分析结果为T21的孕妇晨尿,对19个孕妇的尿液采用磁珠法提取cf DNA,构建文库,Hisq2000测序,测序结果用BWA软件比对序列,计算每个样本的21号染色体所的比对上的唯一读长(Read)比率,最后进行Mann-Whitney U-test检测分析两组样本是否有显著差异。结果胎儿21-三体的孕妇尿液cf DNA中21号染色体的百分含量与胎儿正常孕妇的有显著差异(P=0.04122)。结论对孕妇尿液中的游离DNA进行大规模平行测序可用于无创产前检测21-三体。Objective：This study will analyze the feasibility of noninvasive prenatal testing of fetal trisomy 21（T21）by massively parallel sequencing（MPS）of cell-free DNA（cf DNA）in the maternal urine. Methods：In this research,10 normal samples and 9 T21 samples validated by amniocentesis and karyotype analysis were selected for the prediction. For each sample,at least 5M reads was obtained,and unique mapping rate was calculated. Mann-Whitney U-test was used to analyze whether there is significant difference between two groups. Results：The cf DNA percentage of 21 chromosome in the maternal urine between having T21 fetal and normal one had significant difference（P=0.03502）. Conclusion：Noninvasive prenatal testing of fetal trisomy 21 by MPS of cfDNA in maternal urine is feasibility.

关 键 词：cfDNA 尿液 21-三体 无创产前检测 

分 类 号：R714.5[医药卫生—妇产科学]