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Exploring the feasibility of using long-term stored newborn dried blood spots to identify metabolic features for congenital heart disease screening.


ABSTRACT: Congenital heart disease (CHD) represents a significant contributor to both morbidity and mortality in neonates and children. There's currently no analogous dried blood spot (DBS) screening for CHD immediately after birth. This study was set to assess the feasibility of using DBS to identify reliable metabolite biomarkers with clinical relevance, with the aim to screen and classify CHD utilizing the DBS. We assembled a cohort of DBS datasets from the California Department of Public Health (CDPH) Biobank, encompassing both normal controls and three pre-defined CHD categories. A DBS-based quantitative metabolomics method was developed using liquid chromatography with tandem mass spectrometry (LC-MS/MS). We conducted a correlation analysis comparing the absolute quantitated metabolite concentration in DBS against the CDPH NBS records to verify the reliability of metabolic profiling. For hydrophilic and hydrophobic metabolites, we executed significant pathway and metabolite analyses respectively. Logistic and LightGBM models were established to aid in CHD discrimination and classification. Consistent and reliable quantification of metabolites were demonstrated in DBS samples stored for up to 15 years. We discerned dysregulated metabolic pathways in CHD patients, including deviations in lipid and energy metabolism, as well as oxidative stress pathways. Furthermore, we identified three metabolites and twelve metabolites as potential biomarkers for CHD assessment and subtypes classifying. This study is the first to confirm the feasibility of validating metabolite profiling results using long-term stored DBS samples. Our findings highlight the potential clinical applications of our DBS-based methods for CHD screening and subtype classification.

SUBMITTER: Ceresnak SR 

PROVIDER: S-EPMC10644604 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature

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Exploring the feasibility of using long-term stored newborn dried blood spots to identify metabolic features for congenital heart disease screening.

Ceresnak Scott R SR   Zhang Yaqi Y   Ling Xuefeng B XB   Su Kuo Jung KJ   Tang Qiming Q   Jin Bo B   Schilling James J   Chou C James CJ   Han Zhi Z   Floyd Brendan J BJ   Whitin John C JC   Hwa Kuo Yuan KY   Sylvester Karl G KG   Chubb Henry H   Luo Ruben Y RY   Tian Lu L   Cohen Harvey J HJ   McElhinney Doff B DB  

Biomarker research 20231113 1


Congenital heart disease (CHD) represents a significant contributor to both morbidity and mortality in neonates and children. There's currently no analogous dried blood spot (DBS) screening for CHD immediately after birth. This study was set to assess the feasibility of using DBS to identify reliable metabolite biomarkers with clinical relevance, with the aim to screen and classify CHD utilizing the DBS. We assembled a cohort of DBS datasets from the California Department of Public Health (CDPH)  ...[more]

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