Year: 2026
Type: review
Study design: Systematic Review
Abstract: Background: Recurrent spontaneous abortion (RSA), defined as the loss of two or more consecutive pregnancies, affects approximately 15-25% of couples and represents a significant clinical and emotional burden in reproductive medicine. Despite advances in maternal and fetal care, a substantial proportion of cases remain idiopathic, emphasizing the need to elucidate underlying biological mechanisms. This systematic review aimed to evaluate genetic and molecular biomarkers associated with RSA and to synthesize their role in its pathogenesis, in order to inform future diagnostic and therapeutic strategies. Materials and Methods: This systematic review synthesizes current evidence on genetic and molecular biomarkers associated with spontaneous abortion, based on a systematic search of PubMed, Scopus, Web of Science, EMBASE, and ClinicalTrials.gov (January 2012-June 2024), focusing on findings derived from next-generation sequencing (NGS), array comparative genomic hybridization (aCGH), and bioinformatics approaches; nine eligible studies were included. Results: [e.g., rs1570360: odds ratio (OR)=1.42, 95% confidence interval (CI): 1.10-1.84; rs3025039], are associated with increased risk of recurrent pregnancy loss through disruption of embryogenesis, immune tolerance, and placental angiogenesis. Conclusion: Genetic and non-coding RNA biomarkers offer biologically plausible insights into the mechanisms of RSA, but current evidence remains preliminary and derived mainly from small, single-population studies; multi-ethnic validation and standardized protocols are needed before these markers can be translated into routine clinical practice.
Source: PubMed Central
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7223290929