Congenital cytomegalovirus infection: epidemiology, prediction, diagnosis, and emerging treatment options for symptomatic infants

Introduction: Congenital cytomegalovirus (CMV) infection, long known as a disease of TORCH syndrome, is a CMV infection transmitted from the mother to the fetus via the placenta, and may or may not cause any symptoms. Particularly, symptomatic infants often develop neurological sequelae in their lives. The disease and economic burden associated with congenital CMV infection is substantial in children worldwide. Areas covered: This review described the epidemiology, prediction/prevention, diagnosis, and emerging treatment options of congenital CMV infection, highlighting the laboratory diagnostics using urine and saliva, and the benefits of antiviral therapy, especially based on the Japanese evidences. Authors used PubMed for the literature search. Expert opinion: The best, fastest, and most accurate diagnostic method for congenital CMV infection would be the real-time polymerase chain reaction using urine or saliva within 3 weeks of age. Antiviral therapies using intravenous ganciclovir or oral valganciclovir, which are started during the neonatal period, are effective in improving hearing outcomes in some symptomatic infants. Given that the antiviral drugs are currently off-labels worldwide due to their strict effect and safety concerns, obtaining informed consent from the parents is warranted before their use in infants with congenital CMV disease.