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Comment
. 2025 Mar 1;179(3):332-339.
doi: 10.1001/jamapediatrics.2024.5562.

Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program

Jessica K E Dunn  1   2 , Pranesh Chakraborty  1   3   4 , Emily Reuvers  1 , Lauren Gallagher  1 , Kristin D Kernohan  1   3   4 , Melanie Lacaria  1   3 , Michelle Barton  5 , Kirk Leifso  6 , Jeffrey M Pernica  7 , Emeril Santander  1 , Marie Pigeon  4   8 , Sharon L Cushing  9 , Johnna MacCormick  10 , Soren Gantt  11   12 , Stacey Weber  13 , Ari Bitnun  14 , Jason Brophy  3   4
Affiliations
Comment

Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program

Jessica K E Dunn et al. JAMA Pediatr. .

Abstract

Importance: Detection of congenital cytomegalovirus (cCMV) infection has previously relied on targeted screening programs or clinical recognition; however, these approaches miss most cCMV-infected newborns and fail to identify those infants who are asymptomatic at birth but at risk for late-onset sensorineural hearing loss.

Objective: To determine the feasibility of using routinely collected newborn dried blood spots (DBS) in a population-based cCMV screen to identify infants at risk for hearing loss and describe outcomes of infants screened.

Design, setting, and participants: This diagnostic study of a population-based screening program in Ontario, Canada, took place from July 29, 2019, to July 31, 2023. All newborns with a DBS sample collected as part of routine care were screened using polymerase chain reaction (PCR) analysis for cCMV as a risk factor for hearing loss. Infants with positive DBS PCR results for cCMV were referred for confirmation of infection by urine PCR (the gold standard), as well as complete medical and audiologic assessments for sequelae of cCMV infection. Infants with possible or confirmed symptomatic cCMV were referred to pediatric infectious disease specialists for evaluation for potential treatment with valganciclovir.

Exposure: Detection of cCMV by polymerase chain reaction assay on a newborn DBS.

Main outcomes and measures: Number of infants with positive screening results successfully retrieved and confirmed to have cCMV and the timeliness of retrieval and symptomatic evaluation.

Results: Of 565 987 infants born in the screening period, 551 034 (97.4%) received cCMV screening on the DBS (45.7% female, 54.3% male). Of these infants, 689 (0.13%) screened positive for cCMV; 601 (87.2%) had cCMV infection confirmed and a complete assessment of sequelae of their congenital infection. Ninety-six infants with completed assessments (16.0%) were deemed to have cCMV symptoms, and 63 of these (65.6%) began valganciclovir treatment. Sensorineural hearing loss was confirmed in 34 of 96 infants (35.4%).

Conclusions and relevance: This program found acceptable and feasible implementation of a population-based screening program using routinely collected DBS samples, suggesting that it may serve as a template for jurisdictions considering universal cCMV screening. The program had a much lower than expected prevalence of cCMV-positive screens but still identified many children who would otherwise not have been diagnosed and who would benefit from ongoing audiologic surveillance.

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Conflict of interest statement

Conflict of Interest Disclosures: Dr Dunn reported receiving grants from the Canadian Insitute for Health Research and being a coinvestigator on the KidCOVE pediatric study of the mRNA-1273 COVID-19 vaccine (Moderna) outside the submitted work. Dr Chakraborty reported receiving grants from Novartis for development of technologies for rare disease newborn screening; receiving personal, speaking, and advisory board fees from Novartis for spinal muscular atrophy newborn screening; and being a senior medical advisor the Ontario Ministry of Health in the Laboratories and Diagnostics Branchoutside the submitted work. Dr Barton reported being a volunteer member of the Canadian Paediatric Society’s Infectious Disease and Immunization Committee and participating in writing the 2017 guideline on the management of congenital cytomegalovirus (cCMV). Dr Pernica reported receiving grants from an industry-initiated study of respiratory syncytial virus isolates causing bronchiolitis (funds to his instution) and grants from Merck for an investigator-initiated study of pediatric community-acquired pneumonia (funds to his institution) outside the submitted work. Dr Cushing reported receiving grants from Cochlear Corporation SRA; personal fees from the Cochlear Corporation Advisory Board, the Decibel/Regeneron Advisory Board, the Akouos/Eli Lily Advisory Board, and the Cooke Medical Speaker’s Bureau; and royalties from Plural Publishing as an editor of the Manual of Pediatric Balance Disorders outside the submitted work. Dr Gantt reported receiving grants from Moderna, Merck, and Altona Diagnostics for research on CMV and from Pfizer for for research on Kaposi sarcoma–associated herpesvirus and receiving consulting fees from Moderna, Merck, Curevo, Seqirus, and GSK outside the submitted work. Dr Brophy reported being a site coinvestigator of the KidCOVE trial and being on the ViiV Healthcare advisory board on pediatric HIV. No other disclosures were reported.

Figures

Figure 1.
Figure 1.. Screening Outcomes
cCMV indicates congenital cytomegalovirus; DBS, dried blood spot; PCR, polymerase chain reaction; and SNHL, sensorineural hearing loss. aReasons for not being screened included being unable to consent for hearing loss risk factor screening (during the prepandemic consented period), inadequate DBS sample, families who declined collection of DBS for all screened diseases, newborn infants who had DBS sampling in another province, those who emigrated prior to DBS collection, palliative care or death, and unknown.
Figure 2.
Figure 2.. Time to First Clinical Assessment, Completion of Workup and Categorization, and Treatment Initiation
Whiskers indicate 150% of the IQR. aP < .001, calculated from the Brunner-Munzel test. Significant results support a statistical difference in the frequency of younger ages in the waived consent period for this milestone. bIndicates completion of workup and categorization as symptomatic or asymptomatic. The consented period occurred between July 29, 2019, and March 25, 2020. Waived consent period occurred between March 26, 2020, and July 31, 2023. cP = .58, calculated from the Brunner-Munzel test.
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Comment on

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