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母胎医学中的液体活检与单细胞技术:非侵入性分子方法的范围综述

Liquid Biopsy and Single-Cell Technologies in Maternal-Fetal Medicine: A Scoping Review of Non-Invasive Molecular Approaches.

作者信息

Monroy-Muñoz Irma Eloisa, Torres-Torres Johnatan, Rojas-Zepeda Lourdes, Villafan-Bernal Jose Rafael, Espino-Y-Sosa Salvador, Baca Deyanira, Camacho-Martinez Zaira Alexi, Perez-Duran Javier, Solis-Paredes Juan Mario, Estrada-Gutierrez Guadalupe, Moreno-Verduzco Elsa Romelia, Martinez-Portilla Raigam

机构信息

Department of Reproductive and Perinatal Health Research, Instituto Nacional de Perinatología Isidro Espinosa de los Reyes, Mexico City 11000, Mexico.

Obstetric and Gynecology Department, Hospital General de México Dr. Eduardo Liceaga, Mexico City 06720, Mexico.

出版信息

Diagnostics (Basel). 2025 Aug 16;15(16):2056. doi: 10.3390/diagnostics15162056.

DOI:10.3390/diagnostics15162056
PMID:40870910
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12385971/
Abstract

Perinatal research faces significant challenges in understanding placental biology and maternal-fetal interactions due to limited access to human tissues and the lack of reliable models. Emerging technologies, such as liquid biopsy and single-cell analysis, offer novel, non-invasive approaches to investigate these processes. This scoping review explores the current applications of these technologies in placental development and the diagnosis of pregnancy complications, identifying research gaps and providing recommendations for future studies. This review adhered to PRISMA-ScR guidelines. Studies were selected based on their focus on liquid biopsy or single-cell analysis in perinatal research, particularly related to placental development and pregnancy complications such as preeclampsia, preterm birth, and fetal growth restriction. A systematic search was conducted in PubMed, Scopus, and Web of Science for studies published in the last ten years. Data extraction and thematic synthesis were performed to identify diagnostic applications, monitoring strategies, and biomarker identification. Twelve studies were included, highlighting the transformative potential of liquid biopsy and single-cell analysis in perinatal research. Liquid biopsy technologies, such as cfDNA and cfRNA analysis, provided non-invasive methods for real-time monitoring of placental function and early identification of complications. Extracellular vesicles (EVs) emerged as biomarkers for conditions like preeclampsia. Single-cell RNA sequencing (scRNA-seq) revealed cellular diversity and pathways critical to placental health, offering insights into processes such as vascular remodeling and trophoblast invasion. While promising, challenges such as high costs, technical complexity, and the need for standardization limit their clinical integration. Liquid biopsy and single-cell analysis are revolutionizing perinatal research, offering non-invasive tools to understand and manage complications like preeclampsia. Overcoming challenges in accessibility and standardization will be key to unlocking their potential for personalized care, enabling better outcomes for mothers and children worldwide.

摘要

由于获取人体组织的机会有限且缺乏可靠的模型,围产期研究在理解胎盘生物学和母婴相互作用方面面临重大挑战。新兴技术,如液体活检和单细胞分析,提供了新颖的非侵入性方法来研究这些过程。本综述探讨了这些技术在胎盘发育和妊娠并发症诊断中的当前应用,确定了研究差距并为未来研究提供了建议。本综述遵循PRISMA-ScR指南。研究的选择基于其在围产期研究中对液体活检或单细胞分析的关注,特别是与胎盘发育和妊娠并发症如先兆子痫、早产和胎儿生长受限相关的研究。在PubMed、Scopus和Web of Science中对过去十年发表的研究进行了系统检索。进行了数据提取和主题综合,以确定诊断应用、监测策略和生物标志物识别。纳入了12项研究,突出了液体活检和单细胞分析在围产期研究中的变革潜力。液体活检技术,如cfDNA和cfRNA分析,提供了实时监测胎盘功能和早期识别并发症的非侵入性方法。细胞外囊泡(EVs)成为先兆子痫等病症的生物标志物。单细胞RNA测序(scRNA-seq)揭示了对胎盘健康至关重要的细胞多样性和途径,为血管重塑和滋养层侵袭等过程提供了见解。虽然前景广阔,但高成本、技术复杂性和标准化需求等挑战限制了它们的临床整合。液体活检和单细胞分析正在彻底改变围产期研究,提供非侵入性工具来理解和管理先兆子痫等并发症。克服可及性和标准化方面的挑战将是释放其个性化护理潜力的关键,为全球的母亲和儿童带来更好的结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c785/12385971/bc8d115328c1/diagnostics-15-02056-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c785/12385971/0202ebd20c05/diagnostics-15-02056-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c785/12385971/8d3260a7751c/diagnostics-15-02056-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c785/12385971/bc8d115328c1/diagnostics-15-02056-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c785/12385971/0202ebd20c05/diagnostics-15-02056-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c785/12385971/8d3260a7751c/diagnostics-15-02056-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c785/12385971/bc8d115328c1/diagnostics-15-02056-g003.jpg

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本文引用的文献

1
Single-nuclei RNA-sequencing fails to detect molecular dysregulation in the preeclamptic placenta.单细胞核RNA测序未能检测到子痫前期胎盘的分子失调。
Placenta. 2025 Jan;159:170-179. doi: 10.1016/j.placenta.2024.12.011. Epub 2024 Dec 19.
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An update review of the application of single-cell RNA sequencing in pregnancy-related diseases.单细胞RNA测序在妊娠相关疾病中的应用最新综述
Front Endocrinol (Lausanne). 2024 Dec 9;15:1415173. doi: 10.3389/fendo.2024.1415173. eCollection 2024.
3
Non-invasive determination of gene expression in placental tissue using maternal plasma cell-free DNA fragmentation characters.
利用母体血浆无细胞 DNA 片段特征无创性测定胎盘组织中的基因表达。
Gene. 2024 Nov 30;928:148789. doi: 10.1016/j.gene.2024.148789. Epub 2024 Jul 22.
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DNA methylation landscape in pregnancy-induced hypertension: progress and challenges.妊娠期高血压的 DNA 甲基化图谱:进展与挑战。
Reprod Biol Endocrinol. 2024 Jul 8;22(1):77. doi: 10.1186/s12958-024-01248-0.
5
Gene expression profile of human placental villous pericytes in the first trimester - An analysis by single-cell RNA sequencing.人类胎盘绒毛周细胞的基因表达谱 - 单细胞 RNA 测序分析。
Reprod Biol. 2024 Sep;24(3):100919. doi: 10.1016/j.repbio.2024.100919. Epub 2024 Jun 27.
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Revealing the molecular landscape of human placenta: a systematic review and meta-analysis of single-cell RNA sequencing studies.揭示人类胎盘的分子图谱:单细胞 RNA 测序研究的系统综述和荟萃分析。
Hum Reprod Update. 2024 Jul 1;30(4):410-441. doi: 10.1093/humupd/dmae006.
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Serum exosomal microRNA pathway activation in placenta accreta spectrum: pathophysiology and detection.胎盘植入谱系中血清外泌体微小RNA通路激活:病理生理学与检测
AJOG Glob Rep. 2024 Feb 10;4(1):100319. doi: 10.1016/j.xagr.2024.100319. eCollection 2024 Feb.
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Liquid Biopsy Based on Cell-Free DNA and RNA.基于游离 DNA 和 RNA 的液体活检。
Annu Rev Biomed Eng. 2024 Jul;26(1):169-195. doi: 10.1146/annurev-bioeng-110222-111259. Epub 2024 Jun 20.
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Diagnostic Role of Cell-Free miRNAs in Identifying Placenta Accreta Spectrum during First-Trimester Screening.细胞游离 miRNA 在早孕期筛查中识别胎盘部位滋养细胞肿瘤谱的诊断作用。
Int J Mol Sci. 2024 Jan 10;25(2):871. doi: 10.3390/ijms25020871.
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Cell-Free Nucleic Acids for Early Prediction of Preeclampsia.用于子痫前期早期预测的游离核酸
Curr Hypertens Rep. 2024 Apr;26(4):175-182. doi: 10.1007/s11906-023-01291-z. Epub 2023 Dec 26.