Association analysis of epigenetic modifications during embryonic development and prevention and treatment of congenital malformations
胚胎发育过程中表观遗传修饰与先天畸形防治关联分析

摘要

讨论胚胎发育中表观遗传修饰和先天畸形出现之间的联系，并评价它们对早期筛查和预防的价值。全面分析胚胎关键发育期DNA甲基化，组蛋白修饰以及非编码RNA等动态变化过程，并结合环境因素以及母体生理状态等因素的影响来评价其畸形风险预测效果。表观遗传异常和神经管缺陷、心血管畸形、唇腭裂有密切关系；高通量表观组学分析可以实现风险的早期识别和多组学整合，提高预测的精度；以表观遗传为主的干预策略表现出了潜在的防治效果。胚胎表观遗传修饰对先天畸形的发生具有重要的调控作用，早期标志物筛查及个体化干预可以为临床预防及治疗提供理论依据并为准确产前诊断及风险管理打下基础。

Abstract

This paper discusses the connection between epigenetic modifications during embryonic development and the occurrence of congenital malformations, and evaluates their value in early screening and prevention. Comprehensively analyze the dynamic change processes such as DNA methylation, histone modification and non-coding RNA during the key development period of embryos, and evaluate the predictive effect of deformity risk by combining the influence of environmental factors and maternal physiological status. Epigenetic abnormalities are closely related to neural tube defects, cardiovascular malformations and cleft lip and palate. High-throughput epigenomics analysis can achieve early risk identification and multi-omics integration, improving the accuracy of prediction. Intervention strategies mainly based on epigenetics have demonstrated potential preventive and therapeutic effects. Embryonic epigenetic modifications play a significant regulatory role in the occurrence of congenital malformations. Early marker screening and individualized intervention can provide a theoretical basis for clinical prevention and treatment, and lay a foundation for accurate prenatal diagnosis and risk management.