Unique motif Sequences for early diagnosis of preeclampsia

Preeclampsia (PE) is a disease that significantly impacts both maternal and infant health with its prevalence varying across different ethnicities. Current diagnostic methods for PE typically identify the condition after 20 weeks of gestation, often when the disease has already manifested and reached an advanced stage. The situation underscores the urgent need for early biomarkers capable of effective screening and diagnosis. Our review addresses this challenge by utilizing bioinformatics approaches as an alternative method prior to preclinical and clinical studies. Specifically, we focus on FRAGmentomics-based Methylation Analysis (FRAGMA), targeting the CGCGCGG sequence motif for methylation studies in cell-free DNA (cfDNA). Since cfDNA is largely derived from the placenta, the FRAGMA approach is particularly promising, given that the primary pathophysiology of PE originates in the placenta, and methylation patterns are unique to specific tissues. In the previous research, we identified 66 genes containing this sequence motif that are implicated in the pathophysiology of PE, and only six genes – FN1, ITGA2, ITGA5, ITGB1, ITGB3, and VWF – show potential as early detection biomarkers for PE. These genes still require further investigation to confirm their utility as biomarkers for PE in the future studies.