Preconception Care and Genetic Screening: A Global Review and Strategic Perspectives for Implementation in Bulgaria

Background: Preconception care (PCC) is a key element of preventive reproductive health, aiming to optimise maternal and child outcomes by addressing biomedical, behavioural, psychosocial, and genetic risks before conception. International frameworks provide clear guidance, yet implementation in many low- and middle-income countries remains inconsistent. Methods: A structured narrative review was conducted across PubMed, Web of Science, Cochrane Library, and Google Scholar, focusing on literature published between 2010 and 2025. Eligible sources included empirical studies, clinical guidelines, policy documents, and high-quality grey literature from health authorities. Quality, relevance, and applicability were assessed, with particular emphasis on European and Bulgarian contexts. Results: Evidence from diverse settings demonstrates that PCC interventions—such as chronic disease management, vaccination, lifestyle optimisation, and expanded carrier screening (ECS)—can reduce adverse pregnancy outcomes and prevent severe genetic disorders. Effective international models integrate PCC into primary care, leverage digital health tools, and ensure equitable access through public funding. In Bulgaria, PCC remains underdeveloped: genetic screening is not part of routine care, there are no national guidelines or surveillance systems, and only ~4% of women initiate folic acid supplementation before pregnancy. NGOs and EU-funded digital initiatives provide partial outreach but cannot replace state-supported services. Conclusions: Bulgaria urgently requires a coordinated national PCC strategy, incorporating standardised guidelines, provider training, digital platforms, and phased ECS introduction. Strengthening PCC delivery can reduce preventable maternal and neonatal morbidity, advance reproductive justice, and enhance the long-term sustainability of public health systems. These findings support the development of a publicly funded, guideline-driven national PCC strategy with phased introduction of expanded carrier screening under NHIF to improve equity and long-term system sustainability.