Importance of Preconception Reproductive Genetic Screening in Routine Clinical Care

Preconception reproductive genetic screening (PRGS) is an increasingly important strategy in preventive reproductive healthcare, enabling the identification of carrier status for autosomal recessive and X-linked disorders in asymptomatic individuals prior to conception. Advances in genomic technologies and expanding professional guidelines have shifted screening paradigms from ethnicity-based approaches toward population-neutral expanded carrier screening, underscoring the need for updated clinical and policy perspectives. The objective of this narrative review is to synthesize contemporary evidence on the clinical utility, technological evolution, ethical considerations, and implementation challenges of PRGS in routine care. A comprehensive literature search was conducted across PubMed, Scopus, Cochrane Library, and Web of Science, covering publications from January 2000 to September 2025. Following removal of duplicates and screening of titles, abstracts, and full texts, 80 studies were included in the final narrative synthesis. The reviewed evidence demonstrated that expanded carrier screening using next-generation sequencing improved detection of at-risk couples compared with traditional targeted approaches and supported informed reproductive decision-making. Integration of PRGS with genetic counseling, assisted reproductive technologies, and emerging digital tools such as artificial intelligence-assisted variant interpretation may further enhance scalability and precision. However, significant barriers persist, including variable insurance coverage, limited access to genetic counseling, underrepresentation of diverse populations in genomic databases, and unresolved ethical and psychosocial concerns. Overall, PRGS represents a clinically valuable and ethically complex preventive strategy with significant public health implications. When responsibly implemented with appropriate counseling, equitable access, and robust policy support, PRGS has the potential to reduce the burden of inherited genetic disorders and advance personalized, patient-centered reproductive care.