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Diagnosing congenital Cytomegalovirus infection: don't get rid of dried blood spots.
BMC Infectious Diseases ( IF 3.7 ) Pub Date : 2020-03-12 , DOI: 10.1186/s12879-020-4941-z
Laura Pellegrinelli 1 , Luisella Alberti 2 , Elena Pariani 1 , Maria Barbi 1 , Sandro Binda 1
Affiliation  

Congenital Cytomegalovirus (cCMV) is a serious global public health issue that can cause irreversible fetal and neonatal congenital defects in symptomatic or asymptomatic newborns at birth. In absence of universal cCMV screening, the retrospective diagnosis of cCMV infection in children is only possible by examining Dried Blood Spot (DBS) samples routinely collected at birth and stored for different time spans depending on the newborn screening regulations in force in different countries. In this article, we summarize the arguments in favor of long-term DBS sample storage for detecting cCMV infection. CMV infection is the most common cause of congenital infection resulting in severe defects and anomalies that can be apparent at birth or develop in early childhood. Sensorineural hearing loss is the most frequent consequence of cCMV infection and may have a late onset and progress in the first years of life. The virological diagnosis of cCMV is essential for clinical research and public health practices. In fact, in order to assess the natural history of CMV infection and distinguish between congenital or acquired infection, children should be diagnosed early by analyzing biological samples collected in the first weeks of life (3 weeks by using viral culture and 2 weeks by molecular assays), which, unfortunately, are not always available for asymptomatic or mildly symptomatic children. It now seems possible to overcome this problem since the CMV-DNA present in the blood of congenitally infected newborns can be easily retrieved from the DBS samples on the Guthrie cards routinely collected and stored within 3 days from birth in the neonatal screening program for genetic and congenital diseases. Early collection and long-term storage are inexpensive methods for long-term bio-banking and are the key points of DBS testing for the detection of cCMV. DBS sampling is a reliable and inexpensive method for long-term bio-banking, which enables to diagnose known infectious diseases - including cCMV - as well as diseases not jet recognized, therefore their storage sites and long-term storage conditions and durations should be the subject of political decision-making.

中文翻译:

诊断先天性巨细胞病毒感染:不要摆脱干血斑。

先天性巨细胞病毒 (cCMV) 是一个严重的全球公共卫生问题,可导致出生时有症状或无症状新生儿出现不可逆转的胎儿和新生儿先天性缺陷。在缺乏普遍的 cCMV 筛查的情况下,儿童 cCMV 感染的回顾性诊断只能通过检查出生时常规采集的干血斑 (DBS) 样本,并根据不同国家现行的新生儿筛查法规储存不同时间跨度。在本文中,我们总结了支持长期 DBS 样本存储以检测 cCMV 感染的论点。CMV 感染是先天性感染的最常见原因,可导致出生时明显或儿童早期出现的严重缺陷和异常。感音神经性听力损失是 cCMV 感染最常见的后果,并且可能在生命的最初几年出现迟发和进展。cCMV 的病毒学诊断对于临床研究和公共卫生实践至关重要。事实上,为了评估 CMV 感染的自然病程并区分先天性或获得性感染,应通过分析出生后最初几周收集的生物样本(3 周使用病毒培养和 2 周使用分子检测)来早期诊断儿童),不幸的是,这并不总是适用于无症状或轻度症状的儿童。现在似乎有可能克服这个问题,因为先天性感染新生儿血液中存在的 CMV-DNA 可以很容易地从 Guthrie 卡上的 DBS 样本中检索出来,这些样本在新生儿遗传和遗传筛查计划中在出生后 3 天内常规收集和储存先天性疾病。早期收集和长期储存是长期生物库的廉价方法,是 DBS 检测 cCMV 的关键点。DBS 采样是一种可靠且廉价的长期生物样本库方法,它能够诊断已知的传染病——包括 cCMV——以及无法被喷射识别的疾病,因此它们的储存地点和长期储存条件和持续时间应该是最重要的。政治决策的主体。
更新日期:2020-03-12
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