Universal Newborn Screening for Congenital Cytomegalovirus Using Dried Blood Spot Specimens

Area of Science:

• Neonatal screening and diagnostics
• Infectious diseases
• Public health

Background:

• Congenital cytomegalovirus (cCMV) is a leading nongenetic cause of sensorineural hearing loss and neurological disabilities in children.
• Current lack of universal screening leads to undiagnosed and untreated cCMV disease in many newborns.

Purpose of the Study:

• To evaluate the feasibility, screen-positive rate, and parental acceptance of newborn screening for cCMV using dried blood spot (DBS) specimens.
• To assess the diagnostic yield and implications of cCMV screening in a population-based setting.

Main Methods:

• A population-based diagnostic study screened newborn DBS specimens for CMV alongside routine newborn screening.
• Quantitative polymerase chain reaction (PCR) was used for CMV detection in DBS.
• Parents had the option to opt out of CMV results; referred newborns received follow-up evaluations and treatment.

Main Results:

• Of 208,099 newborns screened, 529 (0.3%) had positive CMV screens, with 276 (0.1% overall) diagnosed with cCMV.
• Symptomatic cCMV disease was diagnosed in 68 newborns (24.6% of cCMV cases), with 70.6% receiving antiviral treatment.
• Postnatally acquired CMV infections were identified in 24.8% of referred newborns, highlighting a significant co-occurring finding.

Conclusions:

• Newborn screening for cCMV is feasible and enables early identification and evaluation, potentially improving outcomes.
• The screening identified both congenital and a notable proportion of postnatally acquired CMV infections.
• Further long-term studies are necessary to fully understand the impact of screening, particularly for asymptomatic cCMV infections.