Diagnosis of congenital CMV infection via dried blood spots

Barbi, Maria; Binda, Sandro; Caroppo, Simona

doi:10.1002/rmv.517

Cited by 95 publications

(87 citation statements)

References 28 publications

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“…Since then several studies tested and adapted this method, with sensitivity ranging from 71% to 100% and specificities of 99% to 100%. 54 A recent study found much lower sensitivities, near 34%, when DBS were used as screening test. 55 However, it is the only way to detect a cCMV infection retrospectively.…”

Section: Retrospective Approachmentioning

confidence: 97%

“…Cross-contamination of adjacent stored cards has been reported. 54,[59][60][61] To understand the importance of cCMV as a cause of childhood hearing loss, we reviewed studies that conducted retrospective testing in a group of hearingimpaired children. Requirements were testing by real-time PCR for quantitative analysis of CMV DNA on DBS or on dried umbilical cords.…”

Section: Retrospective Approachmentioning

confidence: 99%

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Hearing Loss and Congenital CMV Infection: A Systematic Review

Goderis¹,

Leenheer²,

et al. 2014

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BACKGROUND AND OBJECTIVE: Hearing loss caused by congenital cytomegalovirus (cCMV) infection was first observed in 1964. Today cCMV is the most common cause of nonhereditary sensorineural hearing loss in childhood. Our objective was to provide an overview of the prevalence of cCMV-related hearing loss, to better define the nature of cCMV-associated hearing loss, and to investigate the importance of cCMV infection in hearing-impaired children. METHODS:Two reviewers independently used Medline and manual searches of references from eligible studies and review articles to select cohort studies on children with cCMV infection with audiological follow-up and extracted data on population characteristics and hearing outcomes. RESULTS:Thirty-seven studies were included: 10 population-based natural history studies, 14 longitudinal cohort studies, and 13 retrospective studies. The prevalence of cCMV in developed countries is 0.58% (95% confidence interval, 0.41-0.79). Among these newborns 12.6% (95% confidence interval, 10.2-16.5) will experience hearing loss: 1 out of 3 symptomatic children and 1 out of 10 asymptomatic children. Among symptomatic children, the majority have bilateral loss; among asymptomatic children, unilateral loss predominates. In both groups the hearing loss is mainly severe to profound. Hearing loss can have a delayed onset, and it is unstable, with fluctuations and progression. Among hearing-impaired children, cCMV is the causative agent in 10% to 20%. Despite strict selection criteria, some heterogeneity was found between selected studies.CONCLUSIONS: This systematic review underscores the importance of cCMV as a cause of sensorineural hearing loss in childhood. Pediatrics 2014;134:972-982

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Section: Retrospective Approachmentioning

confidence: 97%

Section: Retrospective Approachmentioning

confidence: 99%

Hearing Loss and Congenital CMV Infection: A Systematic Review

Goderis¹,

Leenheer²,

et al. 2014

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“…Dried blood spots (DBS), or Guthrie cards, which are collected routinely at birth in certain countries for newborn genetic and metabolic diseases screening, can be stored for extended periods of time. Since CMV DNA is stable on such DBS cards for up to 18 years, they offer an attractive tool for the retrospective molecular diagnosis of congenital infection in individual children who present with delayed-onset sequelae (112)(113)(114)(115). DBS also have appeal for use in newborn congenital CMV screening programs.…”

Section: Advances In Diagnosis and Management Of The Newbornmentioning

confidence: 99%

“…DBS also have appeal for use in newborn congenital CMV screening programs. However, the variable and disappointing rates of detection of CMV DNA (34 to 100%) have made DBS unsuitable for these purposes (112,114,(116)(117)(118)(119)(120)(121)(122), possibly because not all newborns are viremic at birth or due to technical factors (118,(122)(123)(124). However, a positive DBS PCR finding is diagnostic of congenital CMV infection and accordingly can be useful to retrospectively diagnose congenital CMV infection beyond the neonatal period.…”

Section: Advances In Diagnosis and Management Of The Newbornmentioning

confidence: 99%

The “Silent” Global Burden of Congenital Cytomegalovirus

et al. 2013

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SUMMARYHuman cytomegalovirus (CMV) is a leading cause of congenital infections worldwide. In the developed world, following the virtual elimination of circulating rubella, it is the commonest nongenetic cause of childhood hearing loss and an important cause of neurodevelopmental delay. The seroprevalence of CMV in adults and the incidence of congenital CMV infection are highest in developing countries (1 to 5% of births) and are most likely driven by nonprimary maternal infections. However, reliable estimates of prevalence and outcome from developing countries are not available. This is largely due to the dogma that maternal preexisting seroimmunity virtually eliminates the risk for sequelae. However, recent data demonstrating similar rates of sequelae, especially hearing loss, following primary and nonprimary maternal infection have underscored the importance of congenital CMV infection in resource-poor settings. Although a significant proportion of congenital CMV infections are attributable to maternal primary infection in well-resourced settings, the absence of specific interventions for seronegative mothers and uncertainty about fetal prognosis have discouraged routine maternal antibody screening. Despite these challenges, encouraging results from prototype vaccines have been reported, and the first randomized phase III trials of prenatal interventions and prolonged postnatal antiviral therapy are under way. Successful implementation of strategies to prevent or reduce the burden of congenital CMV infection will require heightened global awareness among clinicians and the general population. In this review, we highlight the global epidemiology of congenital CMV and the implications of growing knowledge in areas of prevention, diagnosis, prognosis, and management for both low (50 to 70%)- and high (>70%)-seroprevalence settings.

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“…DBS testing has been proposed as an alternative method of microbiologic analysis for different infections, since it presents many advantages, such as minimal invasiveness of sampling, relative ease of collection, the possibility of storage for long periods, and a good agreement with serum or plasma testing (12)(13)(14)30). Many studies have evaluated the diagnostic potential of DBS cards testing for retrospective diagnosis of congenital infections during childhood, in particular those due to cytomegalovirus (31,32).…”

Section: Discussionmentioning

confidence: 99%

Evaluation of a New Protocol for Retrospective Diagnosis of Congenital Toxoplasmosis by Use of Guthrie Cards

et al. 2014

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The aim of this study was to assess the diagnostic value of IgM Western blotting (WB), IgA enzyme immunoassay (EIA), and DNA amplification by real-time PCR on Guthrie cards to retrospectively establish the diagnosis of congenital toxoplasmosis (CT). To this purpose, Guthrie cards were collected from 18 infants born to mothers with primary Toxoplasma gondii infection during pregnancy. Moreover, the analytical sensitivity of T. gondii PCR was assessed by testing mock dried blood specimens set up with several known DNA dilutions. IgM WB was demonstrated to be the most sensitive method. When the results of T. gondii DNA detection and specific IgM recovery were combined, retrospective CT diagnosis by using Guthrie cards was established in 3 out of 6 infected infants (sensitivity, 50%; 95% confidence interval, 26.8% to 73.2%). No positive PCR or serologic results were found in the group of 12 uninfected infants, demonstrating the excellent specificity of the three methods (95% confidence interval, 78.1% to 99.5%). The findings of the present study suggest that, in cases of missed diagnosis of CT at birth, analysis of Guthrie cards for children with compatible clinical findings after the perinatal period, in particular the combination of recovery of specific IgM antibodies and T. gondii DNA amplification, could be helpful. Nevertheless, since suboptimal conditions of storage of dried blood specimens can seriously affect sensitivity, negative results cannot rule out CT diagnosis. In contrast, because of the excellent specificity shown by IgM serologic testing and T. gondii DNA amplification on Guthrie cards, positive results obtained by either of the two methods should be considered diagnostic.

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Diagnosis of congenital CMV infection via dried blood spots

Cited by 95 publications

References 28 publications

Hearing Loss and Congenital CMV Infection: A Systematic Review

Hearing Loss and Congenital CMV Infection: A Systematic Review

The “Silent” Global Burden of Congenital Cytomegalovirus

Evaluation of a New Protocol for Retrospective Diagnosis of Congenital Toxoplasmosis by Use of Guthrie Cards

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