Diagnosis of Congenital and Maternal Cytomegalovirus Infection—an Up-to-Date Review

Cytomegalovirus (CMV) is the most common congenital infection worldwide. Twenty percent of congenital CMV (cCMV) infections result in permanent disability, including hearing loss, cognitive deficits, cerebral palsy, and vision impairment, and 4% of cases result in death. Early recognition and diagnosis are imperative, as both antiviral treatment and non-pharmaceutical interventions can improve patient outcomes by reducing hearing loss, other symptomology, and overall disease severity. Specifically, evidence of effective therapy for symptomatic infants and, more recently, reduced fetal transmission following treatment of maternal primary infection may support expanded screening activities. Here, we present an overview of the clinical presentation, treatment and prevention of maternal CMV and cCMV infection. We discuss in detail new diagnostic methods for early and retrospective detection of congenital and maternal primary infections. Finally, we review proposed neonatal and prenatal screening strategies. Clinical laboratories should be aware of the latest clinical studies, the changing diagnostic landscape, and laboratory practices for cCMV and maternal CMV infection.