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提高高龄女性胚胎基因组及生殖能力评估的过去、现在和未来策略

Past, Present, and Future Strategies for Enhanced Assessment of Embryo's Genome and Reproductive Competence in Women of Advanced Reproductive Age.

作者信息

Poli Maurizio, Girardi Laura, Fabiani Marco, Moretto Martina, Romanelli Valeria, Patassini Cristina, Zuccarello Daniela, Capalbo Antonio

机构信息

IGENOMIX, Marostica, Italy.

REPROOMICS, Amsterdam, Netherlands.

出版信息

Front Endocrinol (Lausanne). 2019 Mar 19;10:154. doi: 10.3389/fendo.2019.00154. eCollection 2019.

DOI:10.3389/fendo.2019.00154
PMID:30941103
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6433971/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b76/6433971/a303a3be1984/fendo-10-00154-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b76/6433971/a303a3be1984/fendo-10-00154-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b76/6433971/a303a3be1984/fendo-10-00154-g0001.jpg

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Diagnostic efficacy of blastocoel fluid and spent media as sources of DNA for preimplantation genetic testing in standard clinical conditions.囊胚腔液和废弃培养液作为 DNA 来源用于标准临床条件下的植入前遗传学检测的诊断效能。
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Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M).单基因疾病植入前基因检测（PGT-M）的遗传咨询
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