Cytomegalovirus DNA detection in Guthrie cards: role in the diagnostic work-up of childhood hearing loss.
BACKGROUND
Cytomegalovirus (CMV) infection is the leading cause of congenital nongenetic sensorineural hearing loss (SNHL) and a major cause of prelingual SNHL that is not present at birth. Polymerase chain reaction (PCR) analysis of dried blood samples on the Guthrie card has been proposed as a sensitive and specific method to screen for congenital CMV infection.


METHODS
Prospectively, consecutive infants who failed universal neonatal hearing screening and children referred for a noncongenital SNHL (NCHL) were included and underwent a standard audiometric and etiologic work-up. DNA was extracted from dried blood spots on neonatal Guthrie cards and amplified by real-time PCR. Data were available for 96 cases.


RESULTS
Mean age of the universal neonatal hearing screening group was 3.8 +/- 2.4 months (n = 41). Auditory brain stem response thresholds were 72.9 +/- 20.2 dB nHL. A CMV-positive PCR was obtained in 4 babies. One test was considered false-positive. This resulted in a 7.3% prevalence of congenital CMV infections.Mean age of the NCHL group was 4.9 +/- 3.2 years (n = 55). Hearing loss was moderate in 37, severe in 5, and profound in 13 children. A CMV-positive PCR was obtained in 4 children (7.3%). Other causes of SNHL were excluded in the PCR positive cases of both study groups.


CONCLUSIONS
We advocate PCR for CMV DNA detection on Guthrie cards in the etiologic work-up of childhood SNHL and recommend serologic confirmation to exclude false-positive PCR results. 7.3% of SNHL in babies with congenital hearing loss and children with NCHL could be attributed with this technique to congenital CMV infection.
Boudewyns
An
A
Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, Antwerp University, Antwerp, Belgium. An.Boudewyns@uza.be
Declau
Frank
F
Smets
Koenraad
K
Ursi
Dominique
D
Eyskens
François
F
Van den Ende
Jenneke
J
Van de Heyning
Paul
P
D000293:Adolescent; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D003587:Cytomegalovirus / Q000235:genetics / Q000302:isolation & purification* / Q000378:metabolism; D003586:Cytomegalovirus Infections / Q000097:blood* / Q000150:complications / Q000175:diagnosis* / Q000821:virology; D004279:DNA, Viral / Q000032:analysis / Q000097:blood* / Q000235:genetics; D006312:Hearing Loss, Bilateral / Q000097:blood / Q000175:diagnosis / Q000209:etiology; D006319:Hearing Loss, Sensorineural / Q000097:blood / Q000175:diagnosis / Q000209:etiology*; D046088:Hearing Loss, Unilateral / Q000097:blood / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D012680:Sensitivity and Specificity; D013048:Specimen Handling
D004279:DNA, Viral