[Can we rule out a congenital cytomegalovirus infection when the result of polymerase chain reaction in dried blood spots is negative?]

Abstract

Introduction: The detection of cytomegalovirus (CMV) DNA by real time polymerase chain reaction (rt-PCR) in dried blood spots collected routinely for metabolic screening has been assessed for the retrospective diagnosis of congenital CMV (cCMV) infection in many studies, but not in Spain. The aim of this study is to analyze the diagnostic accuracy of this technique in our hospital.

Methods: A cross-sectional retrospective observational study was conducted including all patients born between January, 2007 and September, 2012 with confirmed cCMV infection. The assessment of CMV DNA was made by using rt-PCR in dried blood spots of these patients.

Results: Fourteen patients were included: 4/14 were symptomatic and 4/14 had sequelae. The detection of CMV DNA by rt-PCR was positive in only 7 patients. A statistically significant relationship between low viral load at birth and negative rt-PCR in dried blood spots was demonstrated.

Conclusions: Despite the low number of patients included, our data highlight an important amount of false negative results in the DNA CMV detection by rt-PCR in these samples for the retrospective diagnosis of cCMV infection, especially in cases with low viral load at birth.

Keywords: ADN viral; Congenital, hereditary, and neonatal diseases and abnormalities; Cribado neonatal; Cytomegalovirus infection; Dried blood spot testing; Enfermedades y anomalías congénitas, hereditarias y neonatales; Gota de sangre seca; Infección por citomegalovirus; Neonatal screening; Reacción en cadena de la polimerasa a tiempo real; Real-time polymerase chain reaction; Viral DNA.