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ORIGINAL RESEARCH article

Front. Pediatr.
Sec. Pediatric Infectious Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1475121

Timing of Congenital Cytomegalovirus Diagnosis and Missed Opportunities

Provisionally accepted
Mallory R. Baker Mallory R. Baker 1*Xing Wang Xing Wang 2Ann J. Melvin Ann J. Melvin 3
  • 1 Department of Audiology, Seattle Children’s Hospital, Seattle, United States
  • 2 Biostatistics Epidemiology and Analytics in Research (BEAR), Seattle Children's Research Institute, Seattle, United States
  • 3 Department of Pediatrics, Division of Pediatric Infectious Disease, University of Washington and Seattle Children’s Research Institute, Seattle, United States

The final, formatted version of the article will be published soon.

    Objective: Although congenital cytomegalovirus (cCMV) is the most common congenital infection world-wide, many infected infants are not diagnosed at birth. Anticipating that infants with cCMV who are not tested at birth risk a delayed diagnosis, this study was conducted to investigate the timing of diagnosis for infants with cCMV and to determine the reasons for and impact of late diagnoses.Methods: Clinical, imaging and laboratory data, hearing and developmental outcomes were abstracted from medical records between 2009-2021 for infants with virologically confirmed cCMV.Results: One hundred and twelve children with confirmed cCMV were identified. Diagnosis was within the first three weeks of life for 60 (54%) (early diagnosis group/EDG) and after this time for 52 (46%) (late diagnosis group/LDG). Infants in the LDG were diagnosed via CMV PCR on neonatal dried blood spot specimens with the majority (71%) tested after identification of sensorineural hearing loss (SNHL). The median time to first CMV testing in the LDG was 12 (IQR 3-42) months. Symptoms consistent with cCMV were present at birth in 17 (33%) of the infants with delayed diagnosis. More infants in the EDG received antiviral treatment (n=41, 68% vs n=19, 23%). Developmental outcomes were similar between groups. Applying different screening strategies to the total cohort, 100%, 66% and 92% could have been diagnosed at birth with universal, hearing targeted and expanded testing strategies respectively.The lack of formal protocols for cCMV testing leads to delayed diagnoses for many infants. This delay results in missed opportunities for monitoring, intervention, and treatment.

    Keywords: Congenital cytomegalovirus (cCMV) infection, Hearing Loss, Newborn screening (NBS), diagnostic delay, congenital infection, Early Intervention

    Received: 04 Aug 2024; Accepted: 07 Jan 2025.

    Copyright: © 2025 Baker, Wang and Melvin. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Mallory R. Baker, Department of Audiology, Seattle Children’s Hospital, Seattle, United States

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.