ArticleJournal of the American Heart Association2025
Resolving Early Targets and Metabolomic Profile of Congenital Heart Disease Through Tandem Mass Spectrometry Screening in Neonates.
Article in Journal of the American Heart Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA good prognosis of congenital heart disease (CHD) depends on early diagnosis and intervention. Under the current screening conditions, a significant proportion still go undetected. Metabolomics, as a phenotype-correlated research methodology, remains underused in the study of CHD, which could provide the possibility to screen neonatal CHD efficiently.
methodsData for the analysis are from >22 000 neonates captured in the Network Platform for CHD from April 2020 to November 2021 in 11 cities in China. After data matching and quality control, a total of 22 674 neonates were finally included and divided into the CHD group (n=1823), nonsignificant CHD group (n=17 968), and normal group (n=2748). Demographic and clinical characteristics and tandem mass spectrometry-based metabolic data for genetic and metabolic disease screening were gathered and compared for all groups. Machine learning models based on metabolic biomarkers were constructed to screen CHD in neonates.
resultsAfter quality control, 22 539 neonates were ultimately included. Among them, 1823 were diagnosed with CHD, 17 968 were nonsignificant CHD, and 2748 were normal. A total of 46 distinguishing metabolic biomarkers were identified, and we found that the CHD group had significantly lower levels of 17-hydroxyprogesterone (CHD versus nonsignificant CHD,
conclusionsThis study reveals the unique metabolic profile of neonates with CHD. The screening model demonstrates considerable potential in early neonatal CHD screening and reflects significant value from a health economics perspective.
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