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游离胎儿DNA在妊娠相关疾病研究中的进展

Advances in cfDNA research for pregnancy-related diseases.

作者信息

Meng Yimei, Yan Yu, Yue Xiaoshan, Li Yan, Mo Yanxiang

机构信息

Department of Obstetrics, Obstetrics and Gynecology Center, The First Hospital of Jilin University, Changchun, China.

Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China.

出版信息

Front Cell Dev Biol. 2025 Aug 5;13:1600532. doi: 10.3389/fcell.2025.1600532. eCollection 2025.

Abstract

Circulating cell-free DNA (cfDNA) comprises extracellular DNA fragments released into bodily fluids through cellular processes such as apoptosis, necrosis, and active secretion. Alterations in cfDNA concentration, fragmentation patterns, and molecular characteristics under physiological and pathological conditions, including pregnancy-related disorders, have established its value as a minimally invasive biomarker for early disease detection and clinical monitoring. Due to the availability of non- or minimally-invasive and scalable detection platforms with high sensitivity and specificity, cfDNA has emerged as a powerful tool in maternal-fetal medicine. This review provides a comprehensive overview of recent advances in cfDNA research, with an emphasis on its applications in pregnancy-related disorders. We elucidate the underlying biological mechanisms, current diagnostic and prognostic uses, analytical technologies, and the key challenges and future directions for clinical translation.

摘要

循环游离DNA(cfDNA)由通过细胞凋亡、坏死和主动分泌等细胞过程释放到体液中的细胞外DNA片段组成。在生理和病理条件下,包括妊娠相关疾病,cfDNA浓度、片段化模式和分子特征的改变已确立其作为早期疾病检测和临床监测的微创生物标志物的价值。由于具有高灵敏度和特异性的非侵入性或微创且可扩展的检测平台的可用性,cfDNA已成为母胎医学中的一种强大工具。本综述全面概述了cfDNA研究的最新进展,重点是其在妊娠相关疾病中的应用。我们阐明了潜在的生物学机制、当前的诊断和预后用途、分析技术以及临床转化的关键挑战和未来方向。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f70/12361174/2145b0a02649/fcell-13-1600532-g001.jpg

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