Guo Ying, Charoenkwan Pimlak, Traisrisilp Kuntharee, Piyamongkol Wirawit, Tongprasert Fuanglada
Department of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Dali University, Dali 671000, China.
Biomolecules. 2025 Mar 1;15(3):360. doi: 10.3390/biom15030360.
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.
本文综述了数字聚合酶链反应（dPCR）在无创产前检测（NIPT）中的当前应用，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。母胎医学中遗传疾病发病率的不断上升，加剧了对精确且可及的无创产前检测选项的需求，这些检测旨在尽量减少侵入性产前诊断程序的必要性。无创产前检测的核心分析物游离胎儿DNA（cffDNA）受多种因素影响，如母体DNA污染、胎盘健康状况和片段降解。dPCR凭借其固有的精确性和检测低丰度靶标的能力，表现出对这些干扰的稳健性。尽管由于其全面的诊断能力，NGS仍然是金标准，但其高成本限制了广泛应用，尤其是在资源有限的环境中。相比之下，dPCR以更低的复杂性和成本提供了相当的准确性，使其成为产前检测的一个有前景的替代方法。
