Zhang Jinglei, Zhang Nan, Mai Qingyun, Zhou Canquan
Reproductive Medical Center, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510080, Guangdong, China.
General Surgery, The First Affiliated Hospital of Henan University of CM, Zhengzhou 450052, China.
Brief Funct Genomics. 2024 Dec 6;23(6):726-732. doi: 10.1093/bfgp/elae041.
The advent of single-cell multi-omics technologies has revolutionized the landscape of preimplantation genetic diagnosis (PGD), offering unprecedented insights into the genetic, transcriptomic, and proteomic profiles of individual cells in early-stage embryos. This breakthrough holds the promise of enhancing the accuracy, efficiency, and scope of PGD, thereby significantly improving outcomes in assisted reproductive technologies (ARTs) and genetic disease prevention. This review provides a comprehensive overview of the importance of PGD in the context of precision medicine and elucidates how single-cell multi-omics technologies have transformed this field. We begin with a brief history of PGD, highlighting its evolution and application in detecting genetic disorders and facilitating ART. Subsequently, we delve into the principles, methodologies, and applications of single-cell genomics, transcriptomics, and proteomics in PGD, emphasizing their role in improving diagnostic precision and efficiency. Furthermore, we review significant recent advances within this domain, including key experimental designs, findings, and their implications for PGD practices. The advantages and limitations of these studies are analyzed to assess their potential impact on the future development of PGD technologies. Looking forward, we discuss the emerging research directions and challenges, focusing on technological advancements, new application areas, and strategies to overcome existing limitations. In conclusion, this review underscores the pivotal role of single-cell multi-omics in PGD, highlighting its potential to drive the progress of precision medicine and personalized treatment strategies, thereby marking a new era in reproductive genetics and healthcare.
单细胞多组学技术的出现彻底改变了植入前基因诊断（PGD）的局面，为深入了解早期胚胎中单个细胞的基因、转录组和蛋白质组图谱提供了前所未有的视角。这一突破有望提高PGD的准确性、效率和范围，从而显著改善辅助生殖技术（ART）的结果和遗传疾病的预防。本综述全面概述了PGD在精准医学背景下的重要性，并阐明了单细胞多组学技术如何改变了这一领域。我们首先简要介绍PGD的历史，重点介绍其在检测遗传疾病和促进ART方面的发展和应用。随后，我们深入探讨单细胞基因组学、转录组学和蛋白质组学在PGD中的原理、方法和应用，强调它们在提高诊断精度和效率方面的作用。此外，我们回顾了该领域最近的重大进展，包括关键实验设计、研究结果及其对PGD实践的影响。分析了这些研究的优点和局限性，以评估它们对PGD技术未来发展的潜在影响。展望未来，我们讨论了新兴的研究方向和挑战，重点关注技术进步、新的应用领域以及克服现有局限性的策略。总之，本综述强调了单细胞多组学在PGD中的关键作用，突出了其推动精准医学和个性化治疗策略发展的潜力，从而标志着生殖遗传学和医疗保健的新时代。
