Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease
Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease
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DOI：
10.1016/j.fertnstert.2012.12.018
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发表时间：
2013-04-01
影响因子：
6.7
通讯作者：
Scott, Richard T., Jr.
中科院分区：
文献类型：
--
作者：
Treff, Nathan R.;Fedick, Anastasia;Scott, Richard T., Jr.
目的：探讨下一代测序（NGS）技术在胚胎植入前遗传学诊断（PGD）中的应用价值；评估基于半导体的NGS在人类胚胎遗传分析中的应用。设计:瞎了。单位：生殖医学学术中心。患者：6对夫妇有将单基因疾病遗传给后代的风险。干预:没有。主要结局指标：两种独立的常规PGD方法的NGS胚胎基因型一致性。结果：与参考实验室和内部开发的基于定量聚合酶链反应（qPCR）的分析相比，NGS提供了100%等效的复合点突变、小缺失和插入的PGD诊断。此外，NGS单基因疾病筛查可与基于qpcr的染色体综合筛查并行进行。结论：NGS可提供与现有方法高度一致的囊胚PGD结果。这项研究及其设计可以作为这项重要的新兴技术进一步发展的模型。肥料(R) 2013；99:1377 - 84。(C) 2013年由美国生殖医学学会出版。)
Objective: To investigate the applicability of next-generation sequencing (NGS) to preimplantation genetic diagnosis (PGD); to evaluate semiconductor-based NGS for genetic analysis of human embryos.Design: Blinded.Setting: Academic center for reproductive medicine.Patient(s): Six couples at risk of transmitting single-gene disorders to their offspring.Intervention(s): None.Main Outcome Measure(s): Embryonic genotype consistency of NGS with two independent conventional methods of PGD.Result(s): NGS provided 100% equivalent PGD diagnoses of compound point mutations and small deletions and insertions compared with both reference laboratory-and internally developed quantitative polymerase chain reaction (qPCR)-based analyses. Furthermore, NGS single-gene disorder screening could be performed in parallel with qPCR-based comprehensive chromosome screening.Conclusion(s): NGS can provide blastocyst PGD results with a high level of consistency with established methodologies. This study and its design could serve as a model for further development of this important and emerging technology. (Fertil Steril (R) 2013; 99:1377-84. (C) 2013 by American Society for Reproductive Medicine.)