Congenital Cytomegalovirus: Advances in Prenatal Screening, Fetal Diagnosis, and Therapeutic Perspectives

Abstract

Introduction: Congenital cytomegalovirus (CMV) infection is the most common congenital infection worldwide and represents a major cause of neonatal morbidity, being the leading non-genetic cause of sensorineural hearing loss and an important cause of neurodevelopmental impairment in children. Despite advances in diagnosis and treatment, important challenges remain regarding prenatal screening, early fetal diagnosis, and standardized management strategies. Objective: To analyze the scientific evidence on advances in prenatal screening, fetal diagnosis, and therapeutic perspectives for congenital cytomegalovirus infection. Methods: This integrative literature review was conducted according to the PRISMA recommendations. Searches were performed in the PubMed/MEDLINE, SciELO, and Virtual Health Library databases using descriptors related to congenital cytomegalovirus. Forty-eight studies were identified, and twelve met the eligibility criteria and were included in the final analysis. Results: The selected studies demonstrated significant advances in the use of polymerase chain reaction (PCR) for maternal, fetal, and neonatal diagnosis, as well as increasing evidence supporting the use of valacyclovir during pregnancy and valganciclovir in symptomatic newborns. However, important challenges remain, including the absence of universal screening programs, limitations of maternal serology, heterogeneous clinical guidelines, and the need for early identification of infants at risk for hearing and neurological sequelae. Conclusion: Early diagnosis, combined with multidisciplinary follow-up and appropriate antiviral therapy, remains the cornerstone for reducing complications associated with congenital CMV infection. Strengthening prevention policies, health education, and research focused on vaccines and novel biomarkers may further reduce the burden of congenital CMV on maternal and child health.