Department of Pediatrics C, Schneider Children's Medical Center of Israel, Petah Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Israel.
Central Virology Laboratory, Ministry of Health, Sheba Medical Center,Ramat Gan, Israel.
J Clin Virol. 2022 Jul;152:105186. doi: 10.1016/j.jcv.2022.105186. Epub 2022 May 13.
Congenital cytomegalovirus (cCMV) is the most common congenital infection in children, with a potential to cause neurodevelopmental delay and sensorineural hearing loss. Not only are most infected newborns asymptomatic at birth, even those who are symptomatic are not always diagnosed in time. Newborn dried blood-spot (DBS) specimens collected routinely at birth, have been recently used for retrospective diagnosis of cCMV. Our objective was to assess the clinical characteristics of children retrospectively diagnosed with cCMV using DBS polymerase chain reaction (PCR) testing, and report whether an early diagnosis could have been achieved.
A retrospective data collection study comprising all infants followed at a dedicated cCMV clinic diagnosed between 2014 and 2019 by the DBS PCR test RESULTS: During the study period, 436 children were born with cCMV and 19 (4.4%) were diagnosed with cCMV by the DBS PCR test. 9/19 were diagnosed before the age of 3 months; 3 of them were diagnosed after the neonatal period, although significant findings suggestive of cCMV were present at birth. 10/19 were diagnosed between 3 and 36 months of age; 6 of these 10 exhibited findings suggestive of cCMV at birth . In total, 8/19 children suffered from long-term sequela, including severe hearing loss or profound developmental delay.
We report the numerous missed opportunities for early diagnosis and treatment of children with cCMV. Universal newborn screening for cCMV may have prevented poor hearing and developmental outcomes in 8 of the 19 children described herein.
先天性巨细胞病毒（cCMV）是儿童中最常见的先天性感染，有导致神经发育迟缓及感音神经性听力损失的潜在风险。不仅大多数感染的新生儿在出生时无症状，即使有症状的新生儿也并非总能及时得到诊断。最近，人们利用新生儿出生时常规采集的干血斑（DBS）标本，进行 cCMV 的回顾性诊断。我们的目的是评估使用 DBS 聚合酶链反应（PCR）检测回顾性诊断为 cCMV 的儿童的临床特征，并报告是否可以更早诊断。
一项回顾性数据收集研究，纳入了 2014 年至 2019 年间在专门的 cCMV 诊所就诊的所有通过 DBS PCR 检测确诊的婴儿。
在研究期间，有 436 名婴儿出生时患有 cCMV，其中 19 名（4.4%）通过 DBS PCR 检测确诊为 cCMV。9/19 名婴儿在 3 月龄前确诊；其中 3 名婴儿在新生儿期后确诊，但在出生时已有提示 cCMV 的显著表现。10/19 名婴儿在 3-36 月龄时确诊；其中 6 名婴儿在出生时存在提示 cCMV 的表现。19 名患儿中共有 8 名出现长期后遗症，包括严重听力损失或严重发育迟缓。
我们报告了许多错失儿童 cCMV 早期诊断和治疗的机会。对所有新生儿进行 cCMV 筛查可能会预防本文中描述的 19 名儿童中的 8 名出现不良听力和发育结局。
