Timing of congenital cytomegalovirus diagnosis and missed opportunities

ObjectiveAlthough 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 di...

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Main Authors: Mallory R. Baker, Xing Wang, Ann J. Melvin
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Pediatrics
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Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1475121/full
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author Mallory R. Baker
Xing Wang
Ann J. Melvin
author_facet Mallory R. Baker
Xing Wang
Ann J. Melvin
author_sort Mallory R. Baker
collection DOAJ
description ObjectiveAlthough 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.MethodsClinical, imaging and laboratory data, hearing and developmental outcomes were abstracted from medical records between 2009 and 2021 for infants with virologically confirmed cCMV.ResultsOne 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.ConclusionThe 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.
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spelling doaj-art-6edca52c8d1c4e729e1a1a3c7e1c71962025-02-04T06:32:09ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-02-011310.3389/fped.2025.14751211475121Timing of congenital cytomegalovirus diagnosis and missed opportunitiesMallory R. Baker0Xing Wang1Ann J. Melvin2Department of Audiology, Seattle Children’s Hospital, Seattle, WA, United StatesBiostatistics Epidemiology and Analytics in Research (BEAR), Seattle Children’s Research Institute, Seattle, WA, United StatesDepartment of Pediatrics, Division of Pediatric Infectious Disease, University of Washington and Seattle Children’s Research Institute, Seattle, WA, United StatesObjectiveAlthough 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.MethodsClinical, imaging and laboratory data, hearing and developmental outcomes were abstracted from medical records between 2009 and 2021 for infants with virologically confirmed cCMV.ResultsOne 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.ConclusionThe 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.https://www.frontiersin.org/articles/10.3389/fped.2025.1475121/fullcongenital cytomegalovirus (cCMV) infectionhearing lossnewborn screening (NBS)diagnostic delaycongenital infectionearly intervention
spellingShingle Mallory R. Baker
Xing Wang
Ann J. Melvin
Timing of congenital cytomegalovirus diagnosis and missed opportunities
Frontiers in Pediatrics
congenital cytomegalovirus (cCMV) infection
hearing loss
newborn screening (NBS)
diagnostic delay
congenital infection
early intervention
title Timing of congenital cytomegalovirus diagnosis and missed opportunities
title_full Timing of congenital cytomegalovirus diagnosis and missed opportunities
title_fullStr Timing of congenital cytomegalovirus diagnosis and missed opportunities
title_full_unstemmed Timing of congenital cytomegalovirus diagnosis and missed opportunities
title_short Timing of congenital cytomegalovirus diagnosis and missed opportunities
title_sort timing of congenital cytomegalovirus diagnosis and missed opportunities
topic congenital cytomegalovirus (cCMV) infection
hearing loss
newborn screening (NBS)
diagnostic delay
congenital infection
early intervention
url https://www.frontiersin.org/articles/10.3389/fped.2025.1475121/full
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