Advances In Maternal–Fetal Health Research: Genetic Variants, Image Processing Biomarkers, And Their Implications For Pregnancy Outcomes And Paediatric Development

Abstract

Maternal–fetal health research is increasingly moving toward integrated models that combine genetic, molecular, imaging, and clinical biomarkers to improve the prediction of pregnancy outcomes and pediatric development. Adverse pregnancy outcomes such as preeclampsia, fetal growth restriction, preterm birth, gestational diabetes, placental insufficiency, congenital anomalies, and neurodevelopmental vulnerability often arise from complex interactions among maternal physiology, fetal genetic contribution, placental function, environmental exposure, and healthcare context. This review examines advances in genetic variants, epigenetic regulation, image processing biomarkers, and imaging–genomics integration in maternal–fetal medicine. Genetic and molecular markers provide insight into disease susceptibility, placental programming, inflammatory regulation, metabolic dysfunction, and developmental risk, while ultrasound, Doppler imaging, placental MRI, fetal MRI, radiomics, and artificial intelligence–based image analysis offer non-invasive approaches for monitoring fetal and placental status. The review also discusses how integrated biomarker strategies may support precision maternal–fetal medicine through personalized surveillance, risk-based monitoring, biomarker-guided prevention, and improved neonatal and pediatric planning. Although these advances show strong translational potential, clinical implementation remains limited by biomarker heterogeneity, validation gaps, population diversity, ethical concerns, and the need for longitudinal mother–child outcome data. Future maternal–fetal research should prioritize multi-center, multi-modal studies that integrate genetics, imaging, environmental exposures, and pediatric follow-up to strengthen prediction, prevention, and personalized care across pregnancy and early development.