Abstract Details
9/08/2025 | 3:15 PM - 3:45 PM | Breakout 3 | Memorial Hall
Retrospective Analysis of Archived Newborn Dried Blood Spots Tested for CMV DNA: Experience and Perspective of a CLIA-Approved Laboratory
Abstract Summary
Background: Congenital cytomegalovirus (cCMV) is a leading cause of sensorineural hearing loss (SNHL) and developmental delay. Early detection is critical, but without universal screening, clinicians face diagnostic dilemmas when signs and symptoms aren’t evident until after day of life 21, since CMV shedding beyond this age may reflect post-natal acquisition. Retrospective newborn dried blood spot PCR (DBS-PCR) offers an opportunity to establish an unequivocal cCMV diagnosis. We describe our experience (CLIA-ID, 24D1049829) with retrospective DBS-PCR for cCMV diagnosis in such circumstances. Methods: Between 2015-2025, 413 archived DBS samples were submitted by clinicians across the US. Most originated from Minnesota (n=325), followed by Wisconsin (n=24), Michigan (n=11), and Illinois (n=9). Common indications for testing included SNHL (n=227/413, 55%); unspecified (n=99, 24%); miscellaneous (vision concerns, parental request, autism; n=32, 7.7%); developmental delay (n=29, 7%); abnormal neuroimaging (n=20, 4.8%); NICU admission with prematurity/IUGR (n=17, 4.1%); unexplained lab abnormalities (transaminitis, thrombocytopenia, abnormal liver function; n=17, 4.1%); and postnatal CMV positivity (n=10, 2.4%). Several submissions cited multiple indications. Results: Of the 413 samples tested, 93 (22.5%) were positive for CMV by DBS-PCR. SNHL was the most frequently documented reason in positive tests (n=47/93, 50.5%). Additional common diagnoses associated with positive results included developmental delay, abnormal neuroimaging, NICU admission, and laboratory abnormalities. The average age at DBS testing was 1 year and 5 months (535 ± 732 days; range, 21 to 3118 days). Viral loads among positive samples ranged from 21.5 to 1,070,000 IU/µg of gDNA, with a median of 2,800 and a mean of 44,721 ± 139,233 IU/µg. No consistent correlation was observed between viral load and clinical indication. Conclusion: cCMV was confirmed in 22.5% of cases, most commonly in children with SNHL. These findings support the value of retrospective DBS testing in establishing a diagnosis of cCMV beyond the newborn period.
Learning Objectives
- Highlight the diagnostic value of retrospective DBS-PCR in confirming cCMV beyond the neonatal period.
- Describe common clinical indications prompting DBS testing, including SNHL and developmental delay.
- Summarize key findings from a 10-year retrospective review of DBS submissions and CMV positivity rates.
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Presenters
Mark Blackstad | Co-Author
black114@umn.edu;
Mr. Blackstad is a molecular virologist and researcher with expertise in PCR-based diagnostics for cytomegalovirus.
ASHA DISCLOSURE
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Nonfinancial -
AAA DISCLOSURE
Financial - No relevant financial relationship exists.
Nelmary Hernandez-Alvarado | Co-Author
nelmary.hernandez@gmail.com;
Ms. Hernandez-Alvarado is a molecular biologist and was formerly the Director of a CLIA-certified CMV diagnostic laboratory at the University of Minnesota. Her work focused on the detection of CMV and the clinical presentation of congenital and neonatal CMV infections. She contributed to this project during her time at the University of Minnesota.
ASHA DISCLOSURE
Financial -
Nonfinancial -
AAA DISCLOSURE
Financial - No relevant financial relationship exists.
Mark R. Schleiss | Co-Author
schleiss@umn.edu ;
Dr. Schleiss is a Professor of Pediatrics and holds the American Legion and Auxiliary Endowed Research Chair at the University of Minnesota Medical School. His laboratory is supported by the NIH. He conducts research in small animal models testing vaccine strategies against congenital CMV infection. His laboratory is also engaged in the study of the epidemiology, pathogenesis and management of congenital and neonatal CMV infections.
ASHA DISCLOSURE
Financial -
Nonfinancial -
AAA DISCLOSURE
Financial - No relevant financial relationship exists.
Claudia Fernandez-Alarcon | Primary Presenter, Author
ferna128@umn.edu;
I am a researcher at the University of Minnesota in Dr. Schleiss’s lab, where I study cytomegalovirus (CMV), the leading viral cause of congenital disabilities. My work focuses on preclinical vaccine development and the investigation of CMV-associated brain and hearing pathology using the guinea pig congenital infection model. I also contribute to studies involving CMV diagnostics and viral genotyping, with an emphasis on understanding maternal-fetal transmission and informing vaccine strategies through population-based sequence analysis. I am committed to advancing translational research that supports the development of effective CMV prevention and intervention tools.
ASHA DISCLOSURE
Financial - No relevant financial relationship exists.
Nonfinancial - No relevant nonfinancial relationship exists.
AAA DISCLOSURE
Financial - No relevant financial relationship exists.