Characterization of a universal screening approach for congenital CMV infection based on a highly-sensitive, quantitative, multiplex real-time PCR assay

PLoS One. 2020 Jan 9;15(1):e0227143. doi: 10.1371/journal.pone.0227143. eCollection 2020.

Abstract

The majority of congenital cytomegalovirus (cCMV) infections are asymptomatic at birth and therefore not diagnosed. Approximately 10-15% of these infants develop late-onset hearing loss and other developmental disorders. Implementation of a universal screening approach at birth may allow early initiation of symptomatic interventions due to a closer follow-up of infants at risk and offers the opportunity to consider treatment of late-onset disease. Real-time PCR assays for the detection of CMV DNA in buccal swab samples demonstrated feasibility and good clinical sensitivity in comparison to a rapid culture screening assay. Because most cCMV infections remain asymptomatic, a universal screening assay that stratifies CMV infected infants according to low and high risk of late-onset cCMV disease could limit the parental anxiety and reduce follow-up costs. We therefore developed and characterized a screening algorithm based on a highly-sensitive quantitative real-time PCR assay that is compatible with centralized testing of samples from universal screening and allows to determine CMV DNA load of saliva samples either as International Units (IU)/ml saliva or IU/105 cell equivalents. 18 of 34 saliva samples of newborns that tested positively by the screening algorithm were confirmed by detection of CMV DNA in blood and/or urine samples obtained during the first weeks of life. All screening samples that could not be confirmed had viral loads of <2.3x105 IU/ml saliva (median: 6.8x103) or 1.3x105 IU/105 cell equivalents (median: 4.0x102). The viral load of screening samples with confirmed cCMV infection ranged from 7.5x102 to 8.2x109 IU/ml saliva (median: 9.3x107) or 1.5x102 to 5.6x1010 IU/105 cell equivalents (median: 3.5x106). Clinical follow-up of these newborns with confirmed cCMV infection should reveal whether the risk of late-onset cCMV disease correlates with CMV DNA load in early life saliva samples and whether a cut-off can be defined identifying cCMV infected infants with or without risk for late-onset cCMV disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cytomegalovirus / genetics*
  • Cytomegalovirus Infections / diagnosis*
  • Cytomegalovirus Infections / virology
  • DNA, Viral / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / blood
  • Infant, Newborn, Diseases / diagnosis*
  • Infant, Newborn, Diseases / urine
  • Male
  • Multiplex Polymerase Chain Reaction / methods*
  • Neonatal Screening / methods*
  • Real-Time Polymerase Chain Reaction / methods*
  • Saliva / virology
  • Urine / virology
  • Viral Load
  • Viremia / diagnosis

Substances

  • DNA, Viral

Grants and funding

Financial support for the study was provided by the National Priorities Research Program (https://www.qnrf.org/en-us/Funding/Research-Programs/National-Priorities-Research-Program-NPRP) of the Qatar National Research Fund (QNRF) with grant number NPRP 7-1845-3-480 to KN, KÜ and KS. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.