Prenatal Epigenetic Biomarker Integration for Enhanced Risk Stratification in Paediatric Hearing Loss Screening

Background: We propose a novel prenatal epigenetic biomarker integration framework to enhance risk stratification in paediatric hearing loss screening, addressing the limitations of conventional postnatal physiological tests. Methods: The proposed system introduces a hybrid pipeline that combines prenatal exposome profiling with epigenetic analysis of placental tissue or cord blood samples, thereby identifying neonates predisposed to auditory impairments due to in utero environmental exposures. A key innovation lies in the epigenetic biomarker analyser, which quantifies deoxyribonucleic acid methylation patterns at loci associated with auditory development genes, then computes a risk score using a weighted sum of methylation deviations from reference values. Furthermore, the system incorporates an exposome profiler to aggregate maternal lifestyle data into an exposure index, which is nonlinearly fused with the epigenetic risk score to generate an integrated risk prediction. Results: This approach enables two-stage integration with traditional screening: high-risk neonates are flagged for accelerated postnatal testing, while the risk score aids in distinguishing transient from persistent hearing deficits. Implemented on portable nanopore sequencing and edge-computing platforms, the system offers rapid, real-time profiling with blockchain-secured data collection for traceability. Conclusion: The method diverges from existing approaches by shifting risk assessment to the prenatal phase, replacing proxy measures with molecularly granular epigenetic markers, and dynamically adapting through federated learning. Clinical validation on longitudinal cohorts demonstrates improved stratification accuracy, potentially reducing delayed diagnoses and optimising resource allocation in neonatal audiology.