Alizadegan Amin, Dianat-Moghadam Hassan, Shadman Nasrin, Nouri Mohammad, Hamdi Kobra, Ghasemzadeh Alieh, Akbarzadeh Maryam, Sarvarian Parisa, Mehdizadeh Amir, Dolati Sanam, Yousefi Mehdi
Department of Reproductive Biology, Faculty of Advanced Medical Sciences, Tabriz University of Medical Sciences, Tabriz, Iran.
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Placenta. 2022 Mar 24;120:18-24. doi: 10.1016/j.placenta.2022.02.003. Epub 2022 Feb 9.
Various biopsy and sampling methods are used for preimplantation genetic diagnosis (PGD) of embryo. This method benefits blastomer/trophectoderm biopsy to improve the clinical outcome of in vitro fertilization (IVF). However, all of these procedures are invasive and have adverse effects on embryo development. Additionally, these procedures require expensive equipment and well-experienced technicians. Regarding these limitations, designing non-invasive methods is necessary. One of the recently proposed non-invasive and applicable methods is cell free DNA (cfDNA) molecule evaluation that have opened up exciting opportunities in the molecular diagnosis of embryo and fetus chromosomal aneuploidy. cfDNA is present in body fluids; especially blood, follicular fluid, amniotic fluid, spent embryo culture medium (SCM) and blastocoel fluid. Overall, this review highlights the cfDNA biomarker might constitute a supplemental tool for improving IVF and pregnancy outcomes, female infertility management. However, the successful application of cfDNA demands an understanding of its biological properties, kinetics, time of collection, high sensitivity and specificity cfDNA detection methods, and their limitation and challenges in the clinical settings. In this review we also describe ethical aspects of cfDNA testing.
多种活检和采样方法被用于胚胎植入前基因诊断（PGD）。这种方法有利于卵裂球/滋养外胚层活检，以改善体外受精（IVF）的临床结局。然而，所有这些操作都是侵入性的，并且会对胚胎发育产生不利影响。此外，这些操作需要昂贵的设备和经验丰富的技术人员。鉴于这些局限性，设计非侵入性方法是必要的。最近提出的一种非侵入性且适用的方法是游离DNA（cfDNA）分子评估，它为胚胎和胎儿染色体非整倍体的分子诊断开辟了令人兴奋的机会。cfDNA存在于体液中；尤其是血液、卵泡液、羊水、废弃胚胎培养基（SCM）和囊胚腔液。总的来说，本综述强调cfDNA生物标志物可能构成一种辅助工具，用于改善IVF和妊娠结局、女性不孕症管理。然而，cfDNA的成功应用需要了解其生物学特性、动力学、采集时间、高灵敏度和特异性的cfDNA检测方法，以及它们在临床环境中的局限性和挑战。在本综述中，我们还描述了cfDNA检测的伦理方面。
