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扩大先天性巨细胞病毒感染的靶向筛查。

Expanded targeted screening for congenital cytomegalovirus infection.

机构信息

Department of Pediatrics, National Hospital Organization Saga National Hospital, 1-20-1 Hinode, Saga, 849-8577, Japan.

Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.

出版信息

Congenit Anom (Kyoto). 2023 May;63(3):79-82. doi: 10.1111/cga.12512. Epub 2023 Mar 28.

Abstract

An early diagnosis and intervention for congenital cytomegalovirus infection can reduce long-term disability; however, the introduction of universal neonatal screening has been controversial worldwide. The present study clarified the outcome of a targeted screening protocol for detecting congenital cytomegalovirus infection based on suggestive perinatal conditions. In addition, the positive rate was compared to those from the reported studies and the validity of the targeted screening criteria was discussed. A total of 2121 newborn infants were admitted to our hospital between October 2018 and October 2021. Cytomegalovirus DNA was examined by the isothermal nucleic acid amplification method for urine samples from newborns with any of the following: microcephaly, abnormal ultrasound findings in the brain and visceral organs, repeated failure in neonatal hearing screening, suspicious maternal cytomegalovirus infection during pregnancy, and other abnormal findings suggestive of congenital cytomegalovirus infection. Among 2121 newborns, 102 (4.8%) were subject to the urine cytomegalovirus DNA test based on the abovementioned criteria. Of them, three were cytomegalovirus DNA-positive. According to the protocol, the cytomegalovirus DNA-positive rates were 0.14% among the total enrollment of 2121 newborns and 2.9% (3/102) among the targeted newborns. This protocol may overlook congenital cytomegalovirus infection that is asymptomatic or exhibits inapparent clinical manifestations only at birth; however, it is feasible and helps lead to the diagnosis of congenital cytomegalovirus infection that may otherwise be overlooked.

摘要

先天性巨细胞病毒感染的早期诊断和干预可以降低长期残疾的风险;然而,在全世界范围内,新生儿普遍筛查的引入一直存在争议。本研究基于提示围产期情况的目标性筛查方案,阐明了检测先天性巨细胞病毒感染的结果。此外,还将阳性率与已报道研究中的阳性率进行了比较,并讨论了目标性筛查标准的有效性。2018 年 10 月至 2021 年 10 月期间,共有 2121 名新生儿入住我院。对于具有以下任何一种情况的新生儿尿液样本,采用等温核酸扩增法检测巨细胞病毒 DNA:小头畸形、脑和内脏器官超声异常、新生儿听力筛查反复失败、可疑母体巨细胞病毒感染和其他提示先天性巨细胞病毒感染的异常发现。在 2121 名新生儿中,有 102 名(4.8%)根据上述标准进行了尿液巨细胞病毒 DNA 检测。其中,3 例巨细胞病毒 DNA 阳性。根据该方案,2121 名新生儿总入组的巨细胞病毒 DNA 阳性率为 0.14%,目标性新生儿的阳性率为 2.9%(3/102)。该方案可能会忽略无症状或仅在出生时表现为不明显临床表现的先天性巨细胞病毒感染;然而,它是可行的,并有助于诊断可能被忽视的先天性巨细胞病毒感染。

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