Centro Universitário Christus, Fortaleza, Ceará, Brazil.
JBRA Assist Reprod. 2022 Aug 4;26(3):554-558. doi: 10.5935/1518-0557.20210102.
Non-invasive preimplantation genetic testing emerged from the discovery of embryonic DNA in spent embryo culture medium. Considering that such methodology would be an important advance in assisted reproduction, this study aimed to evaluate the current scientific evidence, based on the reliability of non-invasive chromosome screening, through a literature review. We analyzed 14 original research papers in PubMed and SciELO, in English and Portuguese, published between 2016 and 2021 related to the topic. The agreement rate for ploidy compared to the traditional method ranged from 3.5% - 93.8% raising the discussion about the possible causes of this large variation, which may be due to the day of collection, spent culture media contamination, amplification methodology or the cytogenetic method used by each author. We concluded that the non-invasive test has many advantages over the traditional method, but that clinical replacement is not yet possible, and further studies are needed in order to have an accurate clinical test with the non-invasive methodology.
非侵入性胚胎植入前基因检测源自于胚胎培养液中发现的胚胎 DNA。鉴于这种方法将是辅助生殖的重要进展，本研究旨在通过文献回顾，基于非侵入性染色体筛查的可靠性，评估当前的科学证据。我们分析了 2016 年至 2021 年间在 PubMed 和 SciELO 上发表的 14 篇与该主题相关的英文和葡萄牙文原始研究论文。与传统方法相比，非整倍体的符合率为 3.5%至 93.8%，这引发了对这种巨大差异可能原因的讨论，其可能归因于采集日期、培养液污染、扩增方法或每个作者使用的细胞遗传学方法。我们得出结论，非侵入性检测方法比传统方法具有许多优势，但目前还不能替代临床应用，需要进一步研究，以便使用非侵入性方法获得准确的临床检测。
