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生物标志物在先天性心脏病诊断中的研究进展

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先天性心脏病(congenital heart disease,CHD)是一种常见的先天性畸形,是发达国家和发展中国家5岁以下出生缺陷儿童死亡的主要原因.随着CHD发病率的不断增加,CHD早期诊断和干预显得尤为重要.产前超声检测通常用于筛查CHD,但许多因素会影响其诊断的准确性.生物标志物检测技术是一种简单、快捷的检查方法,可以作为产前筛查CHD的辅助手段.该文通过探究生物标志物在CHD发病机制中的作用,为CHD诊断提供新思路.近年来许多研究致力于探索与CHD相关的生物标志物,该文从表观遗传学、蛋白组学和环境因素三方面对CHD生物标志物的研究进展作一综述.
Advances in biomarkers for diagnosing congenital heart disease
Congenital heart disease(CHD)is a common congenital anomaly that is the leading cause of death among children under the age of five years with birth defects in both developed and developing countries.With the increasing prevalence of CHD,the importance of early diagnosis and intervention of CHD is well accepted.Prenatal ultrasonography is routinely applied for the screening of CHD but many factors influence its diagnostic accuracy.Biomarker testing is a simple and rapid method that can be used as an adjunct to prenatal screening for CHD.This review aims to provide new ideas for the early diagnosis of children with CHD by exploring the pathogenesis of biomarkers in CHD.In recent years,many studies have been devoted to the exploration of biomarkers related to CHD,and the studies on biomarkers in CHD are summarized from three aspects:epigenetics,proteomics and environmental factors.

Congenital heart diseaseBiomarkerDiagnosisPathogenesis

陆昱全、田桂香、盛伟

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复旦大学附属儿科医院,上海 201102

上海市出生缺陷防治重点实验室 201102

先天性心脏病 生物标志物 诊断 致病机制

国家重点研发计划项目国家自然科学基金面上项目上海市科学技术委员会"科技创新行动计划"基础研究领域项目中国医学科学院创新单元项目

2021YFC27010008227031220JC14183002018RU002

2024

国际儿科学杂志
中华医学会,中国医科大学

国际儿科学杂志

CSTPCD
影响因子:1.057
ISSN:1673-4408
年,卷(期):2024.51(2)
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