Preimplantation Genetic Testing (PGT) aims to reduce the chance of an affected pregnancy or improve success in an assisted reproduction cycle. Since the first established pregnancies in 1990, methodological approaches have greatly evolved, combined with significant advances in the embryological laboratory. The application of preimplantation testing has expanded, while the accuracy and reliability of monogenic and chromosomal analysis have improved. The procedure traditionally employs an invasive approach to assess the nucleic acid content of embryos. All biopsy procedures require high technical skill, and costly equipment, and may impact both the accuracy of genetic testing and embryo viability. To overcome these limitations, many researchers have focused on the analysis of cell-free DNA (cfDNA) at the preimplantation stage, sampled either from the blastocoel or embryo culture media, to determine the genetic status of the embryo non-invasively. Studies have assessed the origin of cfDNA and its application in non-invasive testing for monogenic disease and chromosomal aneuploidies. Herein, we discuss the state-of-the-art for modern non-invasive embryonic genetic material assessment in the context of PGT. The results are difficult to integrate due to numerous methodological differences between the studies, while further work is required to assess the suitability of cfDNA analysis for clinical application.

中文翻译：

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植入前胚胎基因检测的非侵入性方法更新

植入前基因检测 (PGT) 旨在减少受影响怀孕的机会或提高辅助生殖周期的成功率。自 1990 年首次怀孕以来，方法学方法有了很大的发展，并结合了胚胎学实验室的重大进步。植入前检测的应用范围扩大，单基因和染色体分析的准确性和可靠性得到提高。该程序传统上采用侵入性方法来评估胚胎的核酸含量。所有活检程序都需要高技术技能和昂贵的设备，并且可能会影响基因检测的准确性和胚胎活力。为了克服这些局限性，许多研究人员将重点放在植入前阶段的游离 DNA (cfDNA) 分析上，从囊胚腔或胚胎培养基中取样，以非侵入性方式确定胚胎的遗传状态。研究评估了 cfDNA 的来源及其在单基因疾病和染色体非整倍体非侵入性检测中的应用。在此，我们讨论了 PGT 背景下现代非侵入性胚胎遗传物质评估的最新技术。由于研究之间存在许多方法学差异，因此难以整合结果，同时还需要进一步的工作来评估 cfDNA 分析对临床应用的适用性。我们讨论了 PGT 背景下现代非侵入性胚胎遗传物质评估的最新技术。由于研究之间存在许多方法学差异，因此难以整合结果，同时还需要进一步的工作来评估 cfDNA 分析对临床应用的适用性。我们讨论了 PGT 背景下现代非侵入性胚胎遗传物质评估的最新技术。由于研究之间存在许多方法学差异，因此难以整合结果，同时还需要进一步的工作来评估 cfDNA 分析对临床应用的适用性。