Bristol Medical School, Translational Health Sciences, and Bristol Heart Institute, University of Bristol, Bristol, UK.
EMBO Mol Med. 2023 Dec 7;15(12):e18680. doi: 10.15252/emmm.202318680. Epub 2023 Oct 16.
Congenital heart disease (CHD) comprises several cardiovascular abnormalities existing from birth. Cardiac defects range from minor asymptomatic lesions to potentially life-threatening situations. Early fetal echocardiography, the gold standard for the in-utero diagnosis of CHD, is inaccurate at identifying defects in pulmonary veins and atrioventricular valves or lesions that occur later or progress during pregnancy. In this issue of EMBO Molecular Medicine, Yin et al report new proteomic data on maternal blood samples and a novel bioinformatic and artificial intelligence approach for the early diagnosis and screening of CHD.
先天性心脏病（CHD）包括多种出生时即存在的心血管异常。心脏缺陷的范围从小的无症状病变到潜在的危及生命的情况。早期胎儿超声心动图是 CHD 宫内诊断的金标准，但在识别肺静脉和房室瓣的缺陷，以及在妊娠期间发生或进展的病变方面不够准确。在本期的 EMBO Molecular Medicine 杂志上，Yin 等人报告了母血样本的新蛋白质组学数据，以及一种新的生物信息学和人工智能方法，用于 CHD 的早期诊断和筛查。
