Dipartimento di Scienze Biomediche per la Salute, Università degli Studi di Milano, Via Carlo Pascal, 36, 20133, Milan, Italy.
Dipartimento di Scienze Cliniche e di Comunità, Università degli Studi di Milano, Milan, Italy.
BMC Infect Dis. 2019 Jul 22;19(1):652. doi: 10.1186/s12879-019-4296-5.
Congenital Cytomegalovirus (cCMV) is the most common cause of non-genetic hearing loss in childhood. A newborn hearing screening program (NHSP) is currently running in Italy, but no universal cCMV nor statewide hearing-targeted CMV screening programs have been implemented yet. This observational monocentric study was aimed at estimating the rate of cCMV infections identified by CMV-DNA analysis on Dried Blood Spots (DBS) samples in deaf children identified via NHSP in Northern Italy in the period spanning from 2014 to 2018.
Children with a confirmed diagnosis of deafness and investigated for CMV-DNA by nucleic acid extraction and in-house polymerase-chain reaction (PCR) on stored newborns screening cards (DBS-test) were included in this study. Deafness was defined by a hearing threshold ≥20 decibel (dB HL) by Auditory Brainstem Responses (ABR); all investigated DBS samples were collected within 3 days of life.
Overall, 82 children were included (median age: 3.4 months; lower-upper quartiles: 2-5.3 months; males: 60.9%). Most of them (70.7%) presented bilateral hearing loss with a symmetrical pattern in 79.3% of the cases. ABR thresholds were ≥ 70 dB HL (severe/profound deafness) in 46.5% of children. Among all tested children, 6.1% resulted positive for cCMV. The rate of severe/profound deafness was statistically higher in children with cCMV infection.
The addition of DBS-test to the NHSP allowed the identification, in their first months of life, of a cCMV infection in 6.1% of children who had failed NHS. The introduction of a targeted CMV screening strategy could help clinicians in the differential diagnosis and in the babies' management. DBS samples can be considered a "universal newborns biobank": their storage site and duration should be the subject of political decision-making.
先天性巨细胞病毒（cCMV）是儿童非遗传性听力损失的最常见原因。目前，意大利正在运行新生儿听力筛查计划（NHSP），但尚未实施通用的 cCMV 或全州范围内针对 CMV 的听力筛查计划。本观察性单中心研究旨在估计在意大利北部通过 NHSP 发现的失聪儿童中，通过 CMV-DNA 分析在干血斑（DBS）样本中确定的 cCMV 感染率，研究时间跨度为 2014 年至 2018 年。
本研究纳入了通过核酸提取和储存在新生儿筛查卡（DBS 测试）上的聚合酶链反应（PCR）对 CMV-DNA 进行检测，并经确诊为耳聋的儿童。听力损失定义为听性脑干反应（ABR）的听力阈值≥20 分贝（dB HL）；所有检测的 DBS 样本均在出生后 3 天内采集。
共纳入 82 例儿童（中位年龄：3.4 个月；下四分位数-上四分位数：2-5.3 个月；男性：60.9%）。其中，大多数（70.7%）为双侧听力损失，79.3%的病例听力损失呈对称模式。46.5%的儿童 ABR 阈值≥70 dB HL（重度/极重度耳聋）。在所有检测的儿童中，6.1%的儿童 CMV 阳性。CMV 感染的儿童中，重度/极重度耳聋的发生率更高。
将 DBS 测试添加到 NHSP 中，使 NHS 失败的儿童在其生命的最初几个月中能够识别出 cCMV 感染。实施有针对性的 CMV 筛查策略可以帮助临床医生进行鉴别诊断和婴儿管理。DBS 样本可以被视为“通用新生儿生物库”：其储存地点和时间应成为政治决策的主题。
