Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, Antwerp University, Antwerp, Belgium.
Otol Neurotol. 2009 Oct;30(7):943-9. doi: 10.1097/MAO.0b013e3181b76b22.
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.
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.
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.
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.
巨细胞病毒（CMV）感染是先天性非遗传性感觉神经性听力损失（SNHL）的主要原因，也是出生时不存在的感音神经性听力损失的主要原因。已经提出了在 Guthrie 卡上的干燥血样进行聚合酶链反应（PCR）分析，作为筛查先天性 CMV 感染的一种敏感和特异的方法。
前瞻性地纳入了那些未能通过普遍新生儿听力筛查的连续婴儿和因非先天性 SNHL（NCHL）而被转介的儿童，并进行了标准的听力和病因学检查。从新生儿 Guthrie 卡上的干燥血斑中提取 DNA，并通过实时 PCR 进行扩增。共有 96 例病例的数据可用。
普遍性新生儿听力筛查组的平均年龄为 3.8 +/- 2.4 个月（n = 41）。听性脑干反应阈值为 72.9 +/- 20.2 dB nHL。在 4 个婴儿中获得了 CMV 阳性 PCR。一个测试被认为是假阳性。这导致先天性 CMV 感染的患病率为 7.3%。NCHL 组的平均年龄为 4.9 +/- 3.2 岁（n = 55）。听力损失在 37 例中为中度，5 例为重度，13 例为深度。在 4 个儿童（7.3%）中获得了 CMV 阳性 PCR。在这两个研究组的 PCR 阳性病例中，都排除了其他原因引起的 SNHL。
我们主张在儿童 SNHL 的病因学检查中，在 Guthrie 卡上进行 CMV DNA 检测的 PCR，并建议进行血清学确认以排除假阳性 PCR 结果。通过这项技术，先天性听力损失婴儿和 NCHL 儿童的 7.3% SNHL 可归因于先天性 CMV 感染。
