N. Karami, Farzaneh Iravani, Sareh Bakhshandeh Bavarsad, Samira Asadollahi, Seyed Mehdi Hoseini, Fateme Montazeri, S. Kalantar
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引用次数: 0
摘要
为了提高胚胎移植的成功率,增加辅助生殖方法中活产的机会,人们对植入前基因检测(PGT)的需求越来越大。然而,植入前基因检测中使用的侵入性方法导致体外受精失败和流产,增加了父母的焦虑程度。为此,人们引入了非侵入性 PGT 方法,如检测囊胚囊胚液和用过的培养基(SCM)中的 DNA。事实证明,这些方法在检测人类胚胎染色体非整倍体方面具有微创性和有效性。本综述旨在探讨植入前诊断的不同方法,包括侵入性和非侵入性方法,尤其侧重于非侵入性 PGT(niPGT)。检索策略包括使用相关关键词从 PubMed、Google Scholar 和 Science Direct 等科学数据库中收集数据。搜索一直持续到 2023 年 1 月。共有 22 项研究成功报道了胚胎单克隆管中无细胞 DNA 的检测和扩增。值得注意的是,niPGT 存在一些局限性,包括单克隆样本和活检细胞之间在无细胞 DNA 扩增率、一致性、母体 DNA 污染程度、灵敏度和特异性等指标上的差异。因此,要充分了解 niPGT 的临床应用潜力,还需要进行更广泛、更详细的研究。关键字废培养基 无创性胚胎植入前基因检测 活检方法 无细胞胚胎 DNA
Comparing the advantages, disadvantages and diagnostic power of different non-invasive pre-implantation genetic testing: A literature review
To improve embryo transfer success and increase the chances of live birth in assisted reproductive methods, there is a growing demand for the use of pre-implantation genetic testing (PGT). However, the invasive approaches used in PGT have led to in vitro fertilization failure and abortions, increasing anxiety levels for parents. To address this, non-invasive PGT methods have been introduced, such as the detection of DNA in blastocoel fluid of blastocysts and spent culture media (SCM). These methods have proven to be minimally invasive and effective in detecting aneuploidy in the chromosomes of human embryos. This review aims to explore the different approaches to pre-implantation diagnosis, including invasive and non-invasive methods, with a particular focus on non-invasive PGT (niPGT). The search strategy involved gathering data from scientific databases such as PubMed, Google Scholar, and Science Direct using relevant keywords. The search was conducted until January 2023. In total, 22 studies have successfully reported the detection and amplification of cell-free DNA in the embryonic SCM. It is important to note that niPGT has some limitations, which include differences in indicators such as cell-free DNA amplification rate, concordance, level of maternal DNA contamination, sensitivity, and specificity between SCM samples and biopsied cells. Therefore, more extensive and detailed research is needed to fully understand niPGT’s potential for clinical applications.
Key words: Spent culture media, Non-invasive pre-implantation genetic testing, Biopsy methods, Cell-free embryonic DNA.