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胚胎发育障碍是在遗传、表观遗传或环境因素作用下，导致早期胚胎细胞增殖、分化、迁移或组织形态异常，从而引发各类先天缺陷的疾病。本文综述了其关键发病机制，包括合子基因组调控异常、信号通路失调、染色体异常、基因突变、表观遗传修饰异常和基因-环境互作；介绍了该领域研究技术的进展，如高分辨率全基因组测序、单细胞多组学技术、基因编辑技术和类器官模型；展望了人工智能驱动的多组学整合分析及单细胞多模态数据整合技术在深入解析发育机制和实现精准干预方面的潜力；阐述了临床应用中无创产前检测等早期筛查和诊断技术的革新。本文旨在为胚胎发育障碍的临床诊治提供参考，助力推动出生缺陷的防控工作。
Abstract：Embryonic development disorder is a disease caused by genetic, epigenetic or environmental factors, leading to abnormal proliferation, differentiation, migration or tissue morphology of early embryonic cells, which leads to various congenital defects. This article reviews its key pathogenesis, including zygotic genome regulation abnormalities, signaling pathway disorders, chromosomal abnormalities, gene mutations, epigenetic modification abnormalities, and gene-environment interactions. The progress of research techniques in this field is introduced, such as high-resolution whole genome sequencing, single-cell multi-omics technology, gene editing technology and organoid model. The potential of artificial intelligence-driven multi-omics integration analysis and single-cell multimodal data integration technology in in-depth analysis of developmental mechanisms and precise intervention is prospected. The innovation of early screening and diagnostic techniques such as non-invasive prenatal testing in clinical application is described. This article aims to provide a reference for the clinical diagnosis and treatment of embryonic development disorders and help promote the prevention and control of birth defects.
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基本信息:
DOI：10.13417/j.gab.044.000869
中图分类号:R714.2
引用信息:
[1]董小倩,叶红,黄春艳,等.胚胎发育障碍的遗传学研究进展[J].基因组学与应用生物学,2025,44(09):869-877.DOI:10.13417/j.gab.044.000869.
基金信息:
湖北省科技厅自然科学基金创新发展联合基金项目(2024AFD189); 2024年度宜昌市医疗卫生研究项目(A24-2-020)共同资助