Consented Universal Newborn Screening for Congenital Cytomegalovirus Infection Using Dried Blood Spot and Dried Saliva Spot Specimens: Implementation and Relative Programmatic Accuracy.
7 affiliations
- 1Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8M8, Canada.
- 2Children's Hospital of Eastern Ontario Research Institute, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
- 3Department of Pediatrics, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
- 4Centre de recherche Azrieli du CHU Sainte Justine, Montréal, QC H3T 1C5, Canada.
- 5Département de Microbiologie, Infectiologie et Immunologie, Université de Montréal, Montréal, QC H3T 1J4, Canada.
- 6Division of Infectious Diseases, Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
- 7Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, AB T3B 6A8, Canada.
Abstract
The purpose of this research was to evaluate the implementation and relative diagnostic accuracy of dried blood spot (DBS) and dried saliva spot (DSS)-based newborn screening for congenital cytomegalovirus infection (cCMV). This prospective paired-sample pilot studied consecutive births at 10 centers using DBS and DSS specimens from 12 February 2024 to 31 May 2025, using laboratory-developed qPCR assays. Newborns who screened positive on either specimen were offered urine qPCR confirmatory testing. Among 45,597 births, 39,047 newborns (86%) had satisfactory results in both specimens. Of the 150 newborns who screened positive, 39 underwent confirmatory urine testing within 21 days of life, and 24 had cCMV. As a percentage of DBS sensitivity, DSS screening displayed a non-significant relative sensitivity (rSe) of 109% [95CI: 97-123%]. The DSS relative false positive rate was 700% [95CI: 175-2795%] the DBS rate. Each newborn with cCMV identified by DSS but not DBS was associated with 6 additional false positives [95CI: 1.32-27.3]. Calculating rSe including newborns with urine CMV qPCR confirmation after day 21 showed DSS to be 128% [95CI: 111-147%] more sensitive than DBS. In this pilot of DSS screening for cCMV, DSS did not significantly increase sensitivity for cCMV and had an increased false positive rate. Screening with DSS extended turnaround times. Often, DSS screening for cCMV was not achieved within timeframes necessary to offer newborns a definitively diagnostic test to confirm congenital infection. The performance profile of DSS-based screening did not support population-wide implementation of DSS in our program.
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BibTeX
@article{santander2026consented,
title = {{Consented Universal Newborn Screening for Congenital Cytomegalovirus Infection Using Dried Blood Spot and Dried Saliva Spot Specimens: Implementation and Relative Programmatic Accuracy.}},
author = {Emeril Santander and Emily Reuvers and Melanie Lacaria and Stacey Hume and Zeinab Moazin and Lauren Gallagher and Danielle Durie and Alan Mears and Kristin D Kernohan and Soren Gantt and Ari Bitnun and Jessica K E Dunn and Pranesh Chakraborty and Jason Brophy and Neal Sondheimer and Congenital CMV and HEARing in Ontario: Optimizing Screening to Improve Child Health Outcomes (CAN HEAR ONTARIO) Study Team},
journal = {International journal of neonatal screening},
year = {2026},
month = oct,
doi = {10.3390/ijns12040085},
url = {https://europepmc.org/article/MED/42924762},
note = {CC BY},
}
RIS
TY - JOUR
TI - Consented Universal Newborn Screening for Congenital Cytomegalovirus Infection Using Dried Blood Spot and Dried Saliva Spot Specimens: Implementation and Relative Programmatic Accuracy.
AU - Emeril Santander
AU - Emily Reuvers
AU - Melanie Lacaria
AU - Stacey Hume
AU - Zeinab Moazin
AU - Lauren Gallagher
AU - Danielle Durie
AU - Alan Mears
AU - Kristin D Kernohan
AU - Soren Gantt
AU - Ari Bitnun
AU - Jessica K E Dunn
AU - Pranesh Chakraborty
AU - Jason Brophy
AU - Neal Sondheimer
AU - Congenital CMV and HEARing in Ontario: Optimizing Screening to Improve Child Health Outcomes (CAN HEAR ONTARIO) Study Team
PY - 2026
DA - 2026/10/12
JO - International journal of neonatal screening
DO - 10.3390/ijns12040085
UR - https://europepmc.org/article/MED/42924762
AB - The purpose of this research was to evaluate the implementation and relative diagnostic accuracy of dried blood spot (DBS) and dried saliva spot (DSS)-based newborn screening for congenital cytomegalovirus infection (cCMV). This prospective paired-sample pilot studied consecutive births at 10 centers using DBS and DSS specimens from 12 February 2024 to 31 May 2025, using laboratory-developed qPCR assays. Newborns who screened positive on either specimen were offered urine qPCR confirmatory testing. Among 45,597 births, 39,047 newborns (86%) had satisfactory results in both specimens. Of the 150 newborns who screened positive, 39 underwent confirmatory urine testing within 21 days of life, and 24 had cCMV. As a percentage of DBS sensitivity, DSS screening displayed a non-significant relative sensitivity (rSe) of 109% [95CI: 97-123%]. The DSS relative false positive rate was 700% [95CI: 175-2795%] the DBS rate. Each newborn with cCMV identified by DSS but not DBS was associated with 6 additional false positives [95CI: 1.32-27.3]. Calculating rSe including newborns with urine CMV qPCR confirmation after day 21 showed DSS to be 128% [95CI: 111-147%] more sensitive than DBS. In this pilot of DSS screening for cCMV, DSS did not significantly increase sensitivity for cCMV and had an increased false positive rate. Screening with DSS extended turnaround times. Often, DSS screening for cCMV was not achieved within timeframes necessary to offer newborns a definitively diagnostic test to confirm congenital infection. The performance profile of DSS-based screening did not support population-wide implementation of DSS in our program.
SN - 2409-515X
ER -