title: [Can we rule out a congenital cytomegalovirus infection when the result of polymerase chain reaction in dried blood spots is negative?].
abstract: BACKGROUND
  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.
authors.affiliation: Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Hospital Universitari Vall d'Hebron, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, España. Electronic address: 41911ivo@comb.cat.
authors.forename: Isabel
authors.initials: I
authors.lastname: Vives-Oñós
authors.affiliation: Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Hospital Universitari Vall d'Hebron, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, España.
authors.forename: Pere
authors.initials: P
authors.lastname: Soler-Palacín
authors.affiliation: Servicio de Microbiologia, Hospital Universitari Vall d'Hebron, Barcelona, España.
authors.forename: María Gemma
authors.initials: MG
authors.lastname: Codina-Grau
authors.affiliation: Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Hospital Universitari Vall d'Hebron, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, España.
authors.forename: Andrea
authors.initials: A
authors.lastname: Martín-Nalda
authors.affiliation: Programa de Cribado Neonatal, Sección Errores Congénitos del Metabolismo, Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Barcelona, España.
authors.forename: Rosa María
authors.initials: RM
authors.lastname: López-Galera
authors.affiliation: Programa de Cribado Neonatal, Sección Errores Congénitos del Metabolismo, Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Barcelona, España.
authors.forename: José Luís
authors.initials: JL
authors.lastname: Marín-Soria
authors.affiliation: Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Hospital Universitari Vall d'Hebron, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, España.
authors.forename: Concepció
authors.initials: C
authors.lastname: Figueras-Nadal
mesh_terms: D058070:Asymptomatic Diseases; D003430:Cross-Sectional Studies; D003587:Cytomegalovirus / Q000302:isolation & purification*; D003586:Cytomegalovirus Infections / Q000097:blood / Q000151:congenital* / Q000175:diagnosis / Q000652:urine; D004279:DNA, Viral / Q000097:blood*; D005188:False Negative Reactions; D005260:Female; D015658:HIV Infections; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious / Q000821:virology; D060888:Real-Time Polymerase Chain Reaction; D012189:Retrospective Studies; D014556:Urine / Q000821:virology; D019562:Viral Load; D014766:Viremia / Q000097:blood / Q000151:congenital* / Q000175:diagnosis
chemical_list: D004279:DNA, Viral
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