数字聚合酶链反应(dPCR)在无创产前检测(NIPT)中的应用

IF 4.8 2区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Biomolecules Pub Date : 2025-03-01 DOI:10.3390/biom15030360
Ying Guo, Pimlak Charoenkwan, Kuntharee Traisrisilp, Wirawit Piyamongkol, Fuanglada Tongprasert
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引用次数: 0

摘要

本文综述了数字聚合酶链反应(dPCR)在无创产前检测(NIPT)中的应用现状,并探讨了其在产前检测中补充或超越下一代测序(NGS)能力的潜力。随着母胎医学中遗传疾病的发病率不断增加,对精确和可获得的NIPT选择的需求日益增加,其目的是尽量减少对侵入性产前诊断程序的需求。无细胞胎儿DNA (cffDNA)是NIPT的核心分析物,受到许多因素的影响,如母体DNA污染、胎盘健康和片段降解。dPCR以其固有的精确性和检测低丰度目标的能力,对这些干扰表现出鲁棒性。尽管由于其全面的诊断能力,NGS仍然是黄金标准,但其高昂的成本限制了其广泛使用,特别是在资源有限的情况下。相比之下,dPCR以较低的复杂性和费用提供了相当的准确性,使其成为产前检测的有希望的替代方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT).

This article reviews the current applications of the digital polymerase chain reaction (dPCR) in non-invasive prenatal testing (NIPT) and explores its potential to complement or surpass the capabilities of Next-Generation Sequencing (NGS) in prenatal testing. The growing incidence of genetic disorders in maternal-fetal medicine has intensified the demand for precise and accessible NIPT options, which aim to minimize the need for invasive prenatal diagnostic procedures. Cell-free fetal DNA (cffDNA), the core analyte in NIPT, is influenced by numerous factors such as maternal DNA contamination, placental health, and fragment degradation. dPCR, with its inherent precision and ability to detect low-abundance targets, demonstrates robustness against these interferences. Although NGS remains the gold standard due to its comprehensive diagnostic capabilities, its high costs limit widespread use, particularly in resource-limited settings. In contrast, dPCR provides comparable accuracy with lower complexity and expense, making it a promising alternative for prenatal testing.

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来源期刊
Biomolecules
Biomolecules Biochemistry, Genetics and Molecular Biology-Molecular Biology
CiteScore
9.40
自引率
3.60%
发文量
1640
审稿时长
18.28 days
期刊介绍: Biomolecules (ISSN 2218-273X) is an international, peer-reviewed open access journal focusing on biogenic substances and their biological functions, structures, interactions with other molecules, and their microenvironment as well as biological systems. Biomolecules publishes reviews, regular research papers and short communications.  Our aim is to encourage scientists to publish their experimental and theoretical results in as much detail as possible. There is no restriction on the length of the papers. The full experimental details must be provided so that the results can be reproduced.
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