
Aetiological understanding and screening methods for congenital heart disease (CHD) are limited. However, maternal metabolomic assessment offers the potential to identify risk factors and biomarkers. Three studies performed targeted analysis postnatally with altered lipid and amino acid metabolites and raised homocysteine and markers of oxidative stress identified in cases. Studies reported small sample sizes, analyzing different biosamples at variable time points using differing techniques. There is insufficient evidence to associate maternal metabolomic profiles with offspring CHD risk confidently. However, several identified pathways warrant further investigation.
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