Karami Noorodin, Iravani Farzaneh, Bakhshandeh Bavarsad Sareh, Asadollahi Samira, Mehdi Hoseini Seyed, Montazeri Fateme, Mehdi Kalantar Seyed
Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Department of Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Int J Reprod Biomed. 2024 May 15;22(3):177-190. doi: 10.18502/ijrm.v22i3.16161. eCollection 2023 Mar.
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 vitrofertilization 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.
为了提高胚胎移植成功率并增加辅助生殖方法中活产的几率,对植入前基因检测(PGT)的使用需求日益增长。然而,PGT中使用的侵入性方法导致了体外受精失败和流产,增加了父母的焦虑程度。为了解决这一问题,已引入非侵入性PGT方法,如检测囊胚囊胚腔液和废弃培养基(SCM)中的DNA。这些方法已被证明在检测人类胚胎染色体非整倍体方面具有微创性且有效。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,特别关注非侵入性PGT(niPGT)。检索策略包括使用相关关键词从PubMed、谷歌学术和科学Direct等科学数据库收集数据。检索持续到2023年1月。共有22项研究成功报告了胚胎SCM中游离DNA的检测和扩增。需要注意的是,niPGT存在一些局限性,包括SCM样本与活检细胞之间在游离DNA扩增率、一致性、母体DNA污染水平、敏感性和特异性等指标上存在差异。因此,需要更广泛和详细的研究来全面了解niPGT在临床应用中的潜力。