2026 Early Hearing Detection & Intervention Conference
March 15-17, 2026 • Jacksonville, FL
3/16/2026 | 3:10 PM - 3:40 PM | Retrospective Analysis of Newborn Dried Blood Spots Confirms Congenital Cytomegalovirus Infection in Children with Hearing Loss and Other Clinical Concerns | Orlando
Retrospective Analysis of Newborn Dried Blood Spots Confirms Congenital Cytomegalovirus Infection in Children with Hearing Loss and Other Clinical Concerns
Congenital cytomegalovirus (cCMV) is the leading infectious cause of sensorineural hearing loss and developmental delay in children. Because symptoms may not appear until months or years after birth, diagnosis is often delayed or missed entirely. After 21 days of life, it becomes nearly impossible to distinguish congenital from postnatal CMV infection using routine testing. In the absence of universal newborn CMV screening—currently implemented only in Minnesota and Connecticut—families frequently face diagnostic uncertainty. Retrospective dried blood spot (DBS) PCR testing offers an opportunity to confirm cCMV infection, even years after birth, by analyzing samples collected for newborn metabolic screening.
We analyzed 413 archived DBS cards submitted to our CLIA-certified laboratory (ID: 24D1049829) between 2015 and 2025. Samples were received from across the United States. Each underwent real-time PCR targeting the CMV UL83 gene, with human NRAS as an internal control for specimen adequacy. Providers listed one or more clinical indications for testing, including hearing loss, developmental delay, abnormal neuroimaging, prematurity, or cases where CMV infection was already identified by another method (e.g., urine/saliva PCR) in infants beyond the newborn period or shortly after birth, when it was uncertain whether infection was congenital or postnatal.
The most frequent referral reasons were hearing loss (n= 254), prior CMV diagnosis with uncertain timing (n= 107), and abnormal neuroimaging (n= 53). Of the 413 submissions, 93 (22.5%) tested positive for CMV DNA. Among positives, hearing loss was the most frequent association (55.9%), followed by prior CMV diagnosis (34.4%) and abnormal neuroimaging (22.6%). Viral loads ranged from 21 to >1,000,000 IU/µg DNA, with no correlation to indication.
Retrospective DBS-PCR confirmed congenital CMV in nearly one-quarter of submissions, most frequently among children referred for hearing loss. These findings demonstrate the value of DBS testing when universal screening is unavailable and highlight its role in supporting early intervention for affected families.
- Identify the clinical scenarios in which retrospective newborn dried blood spot (DBS) testing is indicated for confirming congenital cytomegalovirus (cCMV) infection.
- Interpret CMV PCR results and positivity patterns across referral categories such as hearing loss, neuroimaging abnormalities, and developmental delay.
- Evaluate how retrospective DBS testing supports early hearing detection and informs universal newborn CMV screening policy and practice.
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Presenters/Authors
Claudia Fernández-Alarcón
(Primary Presenter,Author), University of Minnesota, ferna128@umn.edu;
Claudia Fernández-Alarcón, MS, is a Laboratory Supervisor and Research Coordinator in the Department of Pediatrics, Division of Pediatric Infectious Diseases at the University of Minnesota. She coordinates research on congenital cytomegalovirus (cCMV), including retrospective diagnostic testing using newborn dried blood spots. Her work bridges laboratory diagnostics, clinical data abstraction, and public health surveillance in collaboration with CDC-supported projects.
ASHA DISCLOSURE:
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No relevant financial relationship exists.
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No relevant nonfinancial relationship exists.
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No relevant nonfinancial relationship exists.
Mark Blackstad
(Co-Author), University of Minnesota, black114@umn.edu;
Rsch Pro 2-Genetics/Cell Bio
PEDS Infectious Disease Center
UMN Twin Cities
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Nelmary Hernández-Alvarado
(Co-Author), UMN, nelmaryhernandez@gmail.com;
Former Researcher UMN
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Mark Schleiss
(Co-Author), University of Minnesota, schleiss@umn.edu;
Mark R. Schleiss, M.D. is a Professor of Pediatrics in the University of Minnesota Medical School. Dr. Schleiss is the Director, Division of Infectious Diseases and Immunology, and Associate Chair for Research in the Department of Pediatrics.
Dr. Schleiss received his M.D. degree from the Oregon Health and Sciences University, Portland, Oregon. He completed his residency at Doernbecher Children’s Hospital, Oregon Health and Sciences University, Portland, Oregon and his Pediatric Infectious Diseases fellowship at Children’s Hospital Medical Center, University of Washington, Seattle, Washington. He also completed a fellowship in Molecular Medicine studying cytomegalovirus molecular genetics at the Fred Hutchinson Cancer Research Center, Seattle, Washington. His laboratory at the UMN Center for Infectious Diseases and Microbiology Translational Research is described at this link: http://www.cidmtr.umn.edu/investigators/schleiss/home.html. His research on CMV vaccines is described at this link: http://www.ahc.umn.edu/research/cytomegalovirus/index.htm
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