Poli Maurizio, Girardi Laura, Fabiani Marco, Moretto Martina, Romanelli Valeria, Patassini Cristina, Zuccarello Daniela, Capalbo Antonio
IGENOMIX, Marostica, Italy.
REPROOMICS, Amsterdam, Netherlands.
Front Endocrinol (Lausanne). 2019 Mar 19;10:154. doi: 10.3389/fendo.2019.00154. eCollection 2019.
Recent advancements in genomic analysis allow testing of an increasing number of genetic features in human preimplantation embryos. Typical single gene mutation and whole chromosomes testing can now be integrated with assessment of mitochondrial DNA and polygenic conditions. Diagnostic expansion into epigenetic and transcriptomic assessment in the near future are potential technological targets which may improve the prognostic outlook of patients of advanced reproductive age and overall fertilization (IVF) treatment outcomes. In this review, we discuss the technological progress of recent years and their future applications in preimplantation genetic testing in IVF.
基因组分析的最新进展使得对人类植入前胚胎中越来越多的遗传特征进行检测成为可能。典型的单基因突变和全染色体检测现在可以与线粒体DNA和多基因状况的评估相结合。在不久的将来,将诊断扩展到表观遗传学和转录组学评估是潜在的技术目标,这可能会改善高龄生殖患者的预后前景以及整体体外受精(IVF)治疗效果。在本综述中,我们讨论了近年来的技术进展及其在IVF植入前基因检测中的未来应用。