Laboratoire de Virologie, Hôpital Necker-Enfants-Malades, Centre National de Référence du Cytomégalovirus-Laboratoire Associé, Paris, France.
Clin Infect Dis. 2011 Mar 1;52(5):575-81. doi: 10.1093/cid/ciq241.
Congenital cytomegalovirus (CMV) infection is a public health issue, and implementation of neonatal screening has been debated. Detection of CMV DNA by polymerase chain reaction (PCR) of dried blood spots (DBS) routinely collected for metabolic screening from all newborns has been proposed for congenital CMV infection screening. The goal of this study was to prospectively assess the performance of 2 CMV PCR assays of DBS for CMV neonatal screening in a selected population of neonates.
We studied prospective congenital CMV screening in a population of neonates either born with symptoms compatible with congenital CMV or born to mothers with a history of primary infection during pregnancy. For each neonate, 2 CMV PCR assays of DBS were blindly performed in parallel with a gold standard technique (ie, CMV PCR of a urine sample).
Two hundred seventy-one neonates were studied, and CMV infection, defined by a positive urine sample in the first week of life, was confirmed in 64 (23.6%). Nineteen infected (29.7%) neonates were symptomatic, and 45 (70.3%) were asymptomatic. The ranges of sensitivity, specificity, positive predictive value, and negative predictive value for the 2 CMV PCR assays of DBS were 95.0%-100%; 98.1%-99.0%; 94.1%-96.9%, and 98.5%-100%, respectively.
The sensitivity and specificity of both CMV PCR assays of DBS to identify congenital CMV were very high in this population of neonates with a high risk of sequelae. These new data should be considered in the ongoing debate on the appropriateness of the use of DBS as a sample to screen for congenital CMV infection.
先天性巨细胞病毒（CMV）感染是一个公共卫生问题，新生儿筛查的实施一直存在争议。有人提议对所有新生儿进行常规代谢筛查时采集的干血斑（DBS）进行聚合酶链反应（PCR）检测 CMV DNA，以用于先天性 CMV 感染筛查。本研究的目的是前瞻性评估 2 种 DBS CMV PCR 检测方法在选定新生儿人群中用于先天性 CMV 新生儿筛查的性能。
我们对具有先天性 CMV 感染症状或母亲在怀孕期间有原发性感染史的新生儿进行前瞻性先天性 CMV 筛查。对于每个新生儿，我们同时进行 2 种 DBS CMV PCR 检测，与金标准技术（即尿液样本的 CMV PCR）平行进行。
共研究了 271 例新生儿，在出生后第 1 周通过尿液样本确认 CMV 感染，共 64 例（23.6%）。19 例感染（29.7%）的新生儿有症状，45 例（70.3%）无症状。2 种 DBS CMV PCR 检测的敏感性、特异性、阳性预测值和阴性预测值范围分别为 95.0%-100%、98.1%-99.0%、94.1%-96.9%和 98.5%-100%。
在具有高后遗症风险的这组新生儿中，2 种 DBS CMV PCR 检测方法识别先天性 CMV 的敏感性和特异性均非常高。这些新数据应在关于使用 DBS 作为样本筛查先天性 CMV 感染的适宜性的持续争论中予以考虑。
