Reproductive Medicine Associates of New Jersey, Morristown, NJ 07960, USA.
Fertil Steril. 2013 Apr;99(5):1377-1384.e6. doi: 10.1016/j.fertnstert.2012.12.018. Epub 2013 Jan 9.
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.
Blinded.
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.
研究下一代测序（NGS）在胚胎植入前遗传学诊断（PGD）中的适用性；评估基于半导体的 NGS 用于人类胚胎的遗传分析。
盲法。
生殖医学学术中心。
六对有向后代传递单基因疾病风险的夫妇。
无。
NGS 与两种独立的 PGD 常规方法的胚胎基因型一致性。
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 对复合点突变和小的缺失和插入提供了 100%等效的 PGD 诊断。此外，NGS 单基因疾病筛查可以与基于 qPCR 的综合染色体筛查并行进行。
NGS 可以提供与既定方法高度一致的囊胚 PGD 结果。本研究及其设计可以作为进一步开发这一重要和新兴技术的模型。
