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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 aimed to investigate the feasibility of noninvasive prenatal detection of fetal 21-trisomy (T21) using free DNA (cf DNA) from urine of pregnant women using massively parallel sequencing (MPS). Methods In this study, 10 fetal amniocentesis karyotype analysis results were normal and nine analysis results of morning urine of pregnant women T21, urine of 19 pregnant women using cf method to extract cf DNA, library construction, Hisq2000 sequencing, sequencing results with BWA software to align the sequences and calculate the unique read ratio for alignment of chromosome 21 on each sample. Finally, Mann-Whitney U-test was used to analyze whether there was a significant difference between the two groups of samples. Results Fetal 21 trisomy pregnant women urine cf DNA chromosome 21 percentage of the fetus with normal pregnant women were significantly different (P = 0.04122). Conclusion Large-scale parallel sequencing of free DNA in urine of pregnant women can be used for non-invasive prenatal detection of 21-trisomy.