The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform.
The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform.
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DOI：
10.1371/journal.pone.0110240
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Bhak J
中科院分区：
文献类型：
--
作者：
Jeon YJ;Zhou Y;Li Y;Guo Q;Chen J;Quan S;Zhang A;Zheng H;Zhu X;Lin J;Xu H;Wu A;Park SG;Kim BC;Joo HJ;Chen H;Bhak J
最近的无创产前检测(NIPT)技术是基于下一代测序(NGS)的。NGS允许使用两种常见的测序系统来确定快速有效的临床诊断：Illumina和Ion Torrent平台。大部分NIPT技术都与Illumina平台相关。我们调查了胎儿18和21三体是否可以通过半导体测序仪：离子质子敏感和特异地检测出来。我们于2012年3月至2013年10月在厦门市妇幼保健院(福建厦门，中国)登记了155例胎儿缺陷高危孕妇。用离子质子™系统(Life Technologies，Grand Island，NY，USA)对接头连接的文库进行分析，平均每个核苷酸的测序覆盖率为0.3倍。每个样本的平均总原始读取率为650万，唯一映射读取率的平均为59.0%。本研究的结果来源于BWA作图。采用Z-Score法检测胎儿18、21三体。互动点图显示了区分胎儿18和21三体的阴性和阳性病例的最小z分值。对于胎儿18三体，最小z分值2.459显示100%的阳性预测值和阴性预测值。用最小z分数2.566对胎儿21三体的阴性和阳性病例进行分类。这些结果为利用半导体测序仪检测胎儿18和21三体提供了证据。我们的数据还表明，应该对临床不同的产科患者进行更大规模的前瞻性研究。
Recent non-invasive prenatal testing (NIPT) technologies are based on next-generation sequencing (NGS). NGS allows rapid and effective clinical diagnoses to be determined with two common sequencing systems: Illumina and Ion Torrent platforms. The majority of NIPT technology is associated with Illumina platform. We investigated whether fetal trisomy 18 and 21 were sensitively and specifically detectable by semiconductor sequencer: Ion Proton. From March 2012 to October 2013, we enrolled 155 pregnant women with fetuses who were diagnosed as high risk of fetal defects at Xiamen Maternal & Child Health Care Hospital (Xiamen, Fujian, China). Adapter-ligated DNA libraries were analyzed by the Ion Proton™ System (Life Technologies, Grand Island, NY, USA) with an average 0.3× sequencing coverage per nucleotide. Average total raw reads per sample was 6.5 million and mean rate of uniquely mapped reads was 59.0%. The results of this study were derived from BWA mapping. Z-score was used for fetal trisomy 18 and 21 detection. Interactive dot diagrams showed the minimal z-score values to discriminate negative versus positive cases of fetal trisomy 18 and 21. For fetal trisomy 18, the minimal z-score value of 2.459 showed 100% positive predictive and negative predictive values. The minimal z-score of 2.566 was used to classify negative versus positive cases of fetal trisomy 21. These results provide the evidence that fetal trisomy 18 and 21 detection can be performed with semiconductor sequencer. Our data also suggest that a prospective study should be performed with a larger cohort of clinically diverse obstetrics patients.
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