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9/09/2025  |   1:30 PM - 2:00 PM   |  University Hall

Piloting a Novel Approach to Congenital CMV (cCMV) Screening using Dried Saliva Samples – Preliminary Results from a Quality Improvement Initiative in Ontario to Improve cCMV Diagnosis

Abstract Summary

Newborn Screening Ontario (NSO) introduced risk factor screening for permanent hearing loss in 2019 that included testing birth dried blood spot (DBS) samples for cCMV for all babies. During the first four years, the screen positive rate was 0.13% and true positive rate was 0.11%, significantly lower than the anticipated rate of 0.4-1.0%; this was thought to relate, at least in part, to lower sensitivity of DBS testing for cCMV infection. While saliva testing has been reported to approach 100% sensitivity, it is not known whether compared to DBS, it might be more or less likely to identify infants that go on to develop sequelae. To investigate this, in February 2024, NSO began a quality improvement initiative in 10 birth hospitals collecting dried saliva spot (DSS) samples in addition to DBS to determine the best newborn screening testing method to detect clinically-actionable cCMV. To date, ~36,000 DSS samples have been screened for CMV with a DBS positivity of 0.11%; DSS positivity of 0.32% and true DSS positivity of 0.15%. This gives approximately ~35% higher yield in diagnosis with the addition of DSS. While the screen positive rate of cCMV using DSS is higher than DBS, it is still lower than expected. In addition, for those that are positive only by DSS sample, approximately 80% are negative on urine CMV PCR confirmatory testing, suggesting breastmilk or other forms of contamination. Multiple valuable lessons have been learned from difficulties with newborn saliva collection, sample processing and false positives from breastmilk or environmental contamination of DSS. Families of infants who screen positive with DBS and/or DSS and are confirmed to have cCMV are being invited to participate in a prospective cohort study to collect sociodemographic, clinical, and patient-reported data. We will share clinical and laboratory lessons learned so far from screening DSS samples.

Learning Objectives

  • Describe a quality improvement initiative in Ontario to optimize the identification of infants with cCMV using dried saliva spot (DSS) samples collected with dried blood spots (DBS)
  • Describe laboratory lessons learned in implementing a DSS quality improvement initiative in Ontario to optimize the identification of infants with cCMV
  • Estimate the true sensitivity of DBS compared to DSS for programs considering implementation of cCMV screening

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Presenters


Jessica Dunn | Co-Author

jessica.dunn2@ahs.ca;
Dr Jessica Dunn is a pediatric infectious disease specialist and clinical assistant professor at the University of Calgary. Her research and advocacy work focus on developing programs, shaping public health policies, and conducting applied clinical research to formulate best practices for CMV management across Canada. After completing her fellowship in pediatric infectious diseases, she began her career at the Children’s Hospital of Eastern Ontario, where she became medical lead for the first ever universal screening program for congenital CMV infection with Newborn Screening Ontario. She joined Alberta Children’s Hospital Section of ID in April 2020 as faculty and the co-medical lead for Infection and Prevention Control. In parallel she continues to lead the Ontario congenital CMV screening program, which now serves as a model for other provinces. In 2023, Dr Dunn was honoured with the Health Care Leadership Award from CMV Canada.

ASHA DISCLOSURE

Financial - No relevant financial relationship exists.

Nonfinancial - No relevant nonfinancial relationship exists.

AAA DISCLOSURE

Financial - No relevant financial relationship exists.


Kristin Kernohan | Co-Author

KKernohan@cheo.on.ca;
Kristin Kernohan completed her HB.Sc, Honours specialization in Genetics and Ph.D in Biochemistry at the University of Western Ontario in 2018. After graduate school she completed a post-doctoral fellowship with Care4Rare and CCMG training at the Children’s Hospital of Eastern Ontario before joining NSO in 2018. Dr. Kernohan is certified by the Canadian College of Medical Geneticists. Her research interests include the identification of new disease genes and development of new technologies for newborn screening and molecular diagnostics. She currently is Laboratory Head, Molecular Genetics at Newborn Screening Ontario, CHEO, and associate professor at the University of Ottawa.

ASHA DISCLOSURE

Financial -

Nonfinancial -

AAA DISCLOSURE

Financial - No relevant financial relationship exists.


Melanie Lacaria | Co-Author

MLacaria@cheo.on.ca;
Dr. Melanie Lacaria is a Clinical Laboratory Geneticist working in the molecular laboratory at Newborn Screening Ontario and an Assistant Professor of Pediatrics at the University of Ottawa. Her research interests include new technologies in molecular diagnostics and newborn screening, variant interpretation, and lysosomal diseases.

ASHA DISCLOSURE

Financial -

Nonfinancial -

AAA DISCLOSURE

Financial - No relevant financial relationship exists.


Ari Bitnun | Co-Author

ari.bitnun@sickkids.ca;
Dr. Ari Bitnun is a Professor of Paediatrics at the University of Toronto. His primary appointment is as an academic clinician in the Division of Infectious Diseases, Department of Pediatrics, SickKids. He is also Director of the Family-Centered HIV Clinic and the Congenital & Perinatal Infection Clinic.Dr. Bitnun’s main areas of research are paediatric HIV and childhood encephalitis. He conducts clinical research pertaining to paediatric HIV and prevention of vertical HIV transmission. He is the lead investigator for the SickKids Encephalitis Registry, a project designed to enhance our understanding of the etiology and pathogenesis of acute childhood encephalitis.

ASHA DISCLOSURE

Financial -

Nonfinancial -

AAA DISCLOSURE

Financial - No relevant financial relationship exists.


Ed Yeh | Co-Author

eyeh@cheo.on.ca;
Ed Yeh is a Resource Technologist at Newborn Screening Ontario located at the Children's Hospital of Eastern Ontario.

ASHA DISCLOSURE

Financial -

Nonfinancial -

AAA DISCLOSURE

Financial - No relevant financial relationship exists.


Alan Mears | Co-Author

amears@cheo.on.ca;
Alan Mears is a Genomic Specialist at Newborn Screening Ontario located at the Children's Hospital of Eastern Ontario.

ASHA DISCLOSURE

Financial -

Nonfinancial -

AAA DISCLOSURE

Financial - No relevant financial relationship exists.


Danielle Durie | Co-Author

ddurie@cheo.on.ca;
Danielle Durie is a Laboratory Technician at Newborn Screening Ontario located at the Children's Hospital of Eastern Ontario.

ASHA DISCLOSURE

Financial -

Nonfinancial -

AAA DISCLOSURE

Financial - No relevant financial relationship exists.


Soren Gantt | Co-Author

soren.gantt@umontreal.ca;
Dr. Gantt is a Pediatric Infectious Diseases specialist, the Director of Clinical Research at CHU Sainte-Justine, and Full Professor in the Departments of Microbiology, Infectious Diseases & Immunology and of Pediatrics at the University of Montreal. Dr. Gantt’s current research focuses primarily on the development of CMV vaccines as well as newborn CMV screening programs.

ASHA DISCLOSURE

Financial -

Nonfinancial -

AAA DISCLOSURE

Financial - No relevant financial relationship exists.


Zeinab Moazin | Co-Author

zmoazin@cheo.on.ca;
Zeinab is a research coordinator at the Children's Hospital of Eastern Ontario Research Institute.

ASHA DISCLOSURE

Financial -

Nonfinancial -

AAA DISCLOSURE

Financial - No relevant financial relationship exists.


Jason Brophy | Primary Presenter

jbrophy@cheo.on.ca;
Dr. Jason Brophy is a pediatric infectious diseases specialist and researcher at the Children’s Hospital of Eastern Ontario, and an Associate Professor of Pediatrics at the University of Ottawa. His clinical and research interests are in congenital CMV, pediatric/perinatal HIV, and other congenital infections. He co-leads Newborn Screening Ontario’s CMV Working Group, having helped with the design and launch of CMV screening as part of NSO's expanded hearing screen, as well as the Ontario Regional Team of the Canadian HIV & STBBI trials network (CTN+). He is also a member of CMV Canada's Medical Advisory Committee.

ASHA DISCLOSURE

Financial - No relevant financial relationship exists.

Nonfinancial - No relevant nonfinancial relationship exists.

AAA DISCLOSURE

Financial - Receives support from Canadian Institutes of Health Research (CIHR) and Ontario HIV Trials Network Moderna ViiV Healthcare Clinton Health Access Initiative (CHAI) for CIHR, OHTN - investigator-initiated research grants Moderna - site co-investigator for Moderna KID-COVE study (pediatric COVID19 vaccine in children 6mo-4yr) ViiV Healthcare - advisory board consultant on pediatric HIV treatment CHAI - employee - pediatric HIV advisor.  


Pranesh Chakraborty | Co-Author

pchakraborty@cheo.on.ca;
Dr. Chakraborty is a physician certified by the Royal College in Medical Biochemistry and Pediatrics, with a subspecialty in Biochemical Genetics. He joined CHEO in 2003 as a clinician seeing patients with inborn errors of metabolism. In 2006, he led the transition of Ontario’s newborn screening program to Ottawa leading to the establishment of Newborn Screening Ontario (NSO) at CHEO. In 2019, Dr. Chakarborty led the charge to introduce CMV screening as part of an expanded hearing screen through NSO and the provincial infant hearing program. In 2024, he became the Chief of Pediatrics at CHEO and Chair of the University of Ottawa Department of Pediatrics.

ASHA DISCLOSURE

Financial -

Nonfinancial -

AAA DISCLOSURE

Financial - No relevant financial relationship exists.


Emily Reuvers | Author, Co-Author

ereuvers@cheo.on.ca;
Emily Reuvers is a Clinical Content Specialist at Newborn Screening Ontario (NSO). Her primary role involves coordination of the provincial congenital cytomegalovirus (cCMV) screening program. She is also involved in the delivery of newborn screening for other diseases, including clinical lead for the Endocrinology disease specific working group. Prior to joining NSO she worked for over 15 years in the neonatal intensive care unit caring for infants as a bedside nurse, clinical educator, and manager.

ASHA DISCLOSURE

Financial - No relevant financial relationship exists.

Nonfinancial - No relevant nonfinancial relationship exists.

AAA DISCLOSURE

Financial - No relevant financial relationship exists.


Neal Sondheimer | Co-Author

nsondheimer@cheo.on.ca;
Dr. Sondheimer is a clinical and metabolic geneticist. He completed his subspecialty training at The Children’s Hospital of Philadelphia. He previously served as a staff physician in metabolics and as Section Head of metabolics at The Hospital for Sick Children, Toronto. His research has focused on therapies for inborn errors, newborn screening, and the impact of mitochondrial DNA sequence variants on common and rare disease. Dr. Sondheimer joined NSO in 2024 as Medical Director.

ASHA DISCLOSURE

Financial -

Nonfinancial -

AAA DISCLOSURE

Financial - No relevant financial relationship exists.