CHUCB: Centro Hospitalar Cova da Beira, Covilhã, Portugal; CICS-UBI: Health Sciences Research Center, Faculty of Health Sciences, Universidade da Beira Interior, Covilhã, Portugal.
CHUCB: Centro Hospitalar Cova da Beira, Covilhã, Portugal.
J Clin Virol. 2023 Aug;165:105516. doi: 10.1016/j.jcv.2023.105516. Epub 2023 Jun 3.
Cytomegalovirus (CMV) is a leading cause of congenital infections. Dried blood spots (DBS) collected in the first week of life (Guthrie cards) have been used in the diagnosis of CMV infection outside the three-week window period following birth. The present work summarizes the results of a 15-year observational study in which DBS from 1388 children were used for a late diagnosis of congenital CMV infection.
Three groups of children were studied: (i) symptomatic (with symptoms at birth or late sequelae) (N = 779); (ii) born to mothers with serological profile of primary CMV infection (N = 75); (iii) without any information (N = 534). A highly sensitive method of DNA extraction (heat-induced) from the DBS was used. CMV DNA was detected by a nested PCR.
In total CMV DNA was detected in 7.5% (104/1388) of children. Symptomatic children showed a low rate of CMV DNA detection (6.7%) than children born to mothers with serological profile of primary CMV infection (13.3%) (p = 0.034). Sensorial hearing loss and encephalopathy were the two clinical manifestations with the highest CMV detection rate (18.3% and 11.1%, respectively). Children whose mothers had a confirmed primary infection showed a higher rate of CMV detection (35.3%) when compared with children whose mothers had a not confirmed primary infection (6.9%) (p = 0.007).
The present work emphasises the importance of testing DBS in symptomatic children even a long time after symptoms onset and in children born to mothers with serologic diagnosis of maternal primary CMV infection when they miss the diagnosis during the three-week window following birth.
巨细胞病毒（CMV）是导致先天性感染的主要原因。在出生后三周窗口期之外，通过采集婴儿出生后第一周的干血斑（Guthrie 卡）可用于诊断 CMV 感染。本研究总结了一项为期 15 年的观察性研究结果，该研究使用 1388 例儿童的干血斑进行了迟发性先天性 CMV 感染的诊断。
研究了三组儿童：（i）有症状的（出生时有症状或后期有后遗症）（N=779）；（ii）母亲血清学 CMV 原发感染的（N=75）；（iii）无任何信息的（N=534）。采用热诱导法从 DBS 中提取高度敏感的 DNA。通过巢式 PCR 检测 CMV DNA。
总共在 1388 例儿童中有 7.5%（104/1388）检测到 CMV DNA。有症状的儿童 CMV DNA 检出率较低（6.7%），而母亲血清学 CMV 原发感染的儿童检出率较高（13.3%）（p=0.034）。感觉性听力损失和脑病是 CMV 检出率最高的两种临床表现（分别为 18.3%和 11.1%）。与母亲未确诊原发感染的儿童相比，母亲确诊原发感染的儿童 CMV 检出率更高（35.3%对 6.9%）（p=0.007）。
本研究强调了即使在症状出现后很长时间，对有症状的儿童以及在出生后三周窗口期内漏诊的母亲血清学 CMV 原发感染的儿童进行 DBS 检测的重要性。
