Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program

Area of Science:

• Neonatal screening
• Infectious disease diagnostics
• Public health

Background:

• Congenital cytomegalovirus (cCMV) infection is a leading cause of non-genetic sensorineural hearing loss in newborns.
• Current detection methods often miss asymptomatic infants at risk for late-onset hearing deficits.
• Population-based screening is needed to identify at-risk infants early.

Purpose of the Study:

• To assess the feasibility of a population-based congenital cytomegalovirus (cCMV) screening program using newborn dried blood spots (DBS).
• To identify infants at risk for hearing loss due to cCMV infection.
• To describe the outcomes of infants identified through the screening program.

Main Methods:

• A diagnostic study implemented a population-based screening program in Ontario, Canada (July 2019–July 2023).
• Newborn dried blood spot (DBS) samples were screened for cCMV using polymerase chain reaction (PCR).
• Positive DBS PCR results were confirmed with urine PCR, followed by medical and audiologic assessments.

Main Results:

• Over 551,000 infants were screened; 689 (0.13%) screened positive for cCMV.
• cCMV infection was confirmed in 601 infants, with 96 (16.0%) exhibiting symptoms.
• Sensorineural hearing loss was diagnosed in 34 of the 96 symptomatic infants (35.4%).

Conclusions:

• Population-based screening for cCMV using routinely collected DBS samples is feasible and acceptable.
• The program successfully identified infants with cCMV who might otherwise have been missed.
• This screening approach can serve as a model for universal cCMV screening to prevent hearing loss.