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

ABSTRACT

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.

KEYWORDS:

• Antiviral therapy
• congenital cytomegalovirus infection
• diagnosis
• neurological sequelae
• saliva
• symptomatic infant
• urine

Article highlights

• The incidence of congenital CMV infection was 1 in 300 births (0.31%) in Japan.

• Many of symptomatic infants, even some of asymptomatic infants at birth, are expected to have neurological sequelae.

• For predicting the development of congenital CMV infection, maternal universal screening is limited for identifying all infants with congenital CMV infection.

• The best, fastest, and most accurate diagnostic method for congenital CMV infection is the real-time polymerase chain reaction using the liquid 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.

This box summarizes key points contained in the article.

Declaration of interest

I Morioka has received a grant disclosed above from the Japan Agency for Medical Research and Development and speaker fee from Shino-test Corp., Japan. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewer Disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was funded by the Japan Agency for Medical Research and Development, AMED; grant number: JP19gk0110037.