R&D Department, Igenomix, Valencia, Spain.
R&D Department, Igenomix UK, Surrey, United Kingdom.
F S Sci. 2023 May;4(2S):7-16. doi: 10.1016/j.xfss.2023.01.001. Epub 2023 Feb 8.
Detection of chromosomal aneuploidies and monogenic disorders in preimplantation embryos is essential for selecting the best embryo for transfer during in vitro fertilization to achieve a healthy pregnancy. Preimplantation genetic testing (PGT) is typically performed on preimplantation embryos to select a genetically normal embryo for transfer. A trophectoderm biopsy is necessary for PGT; this is an invasive procedure to the embryo that requires specialized equipment and highly trained embryologists, resulting in high costs associated with in vitro fertilization treatment. Moreover, the biopsy procedure may increase the likelihood of developing pregnancy complications, such as preeclampsia and hypertensive disorders. Therefore, there is a need for noninvasive embryo screening strategies. The presence of cell-free deoxyribonucleic acid in the embryo culture medium presents an opportunity to screen for genetic abnormalities. Cell-free deoxyribonucleic acid is released by embryos in the latter stages of preimplantation development, and its analysis has been proposed as a noninvasive approach for PGT. Here, we review studies reporting the concordance rates between cell-free deoxyribonucleic acid and trophectoderm biopsies, or whole blastocysts, in couples undergoing PGT. Noninvasive PGT results are promising for aneuploidy detection, with some early evidence of successful clinical application. Further research is required to explore its application for the detection of structural rearrangements and monogenic disorders.
在体外受精过程中，为了选择最佳的胚胎进行移植以实现健康妊娠，检测胚胎的染色体非整倍体和单基因疾病至关重要。胚胎植入前遗传学检测（PGT）通常用于对胚胎进行检测，以选择遗传正常的胚胎进行移植。PGT 需要进行滋养外胚层活检，这是一种对胚胎具有侵入性的程序，需要专门的设备和高度训练有素的胚胎学家，因此与体外受精治疗相关的成本很高。此外，活检程序可能会增加发生妊娠并发症的可能性，如子痫前期和高血压疾病。因此，需要有非侵入性的胚胎筛选策略。胚胎培养液中存在游离脱氧核糖核酸为筛选遗传异常提供了机会。游离脱氧核糖核酸是胚胎在植入前发育的后期释放的，其分析已被提议作为 PGT 的一种非侵入性方法。在这里，我们回顾了报告在进行 PGT 的夫妇中，游离脱氧核糖核酸与滋养外胚层活检或整个囊胚之间的一致性率的研究。非侵入性 PGT 在检测非整倍体方面有很好的结果，并且有一些早期成功的临床应用证据。需要进一步研究来探索其在检测结构重排和单基因疾病方面的应用。
