Expanded targeted screening for congenital cytomegalovirus infection

IF 1.3 4区 医学 Q3 PEDIATRICS Congenital Anomalies Pub Date : 2023-03-22 DOI:10.1111/cga.12512
Yumeng Zhang, Tomoko Egashira, Masakazu Egashira, Shun Ogiwara, Hiroyuki Tomino, Akinori Shichijo, Tomoko Mizukami, Tsutomu Ogata, Hiroyuki Moriuchi, Toshimitsu Takayanagi
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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.

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扩大先天性巨细胞病毒感染的靶向筛查
先天性巨细胞病毒感染的早期诊断和干预可以减少长期残疾;然而,普遍的新生儿筛查的引入在世界范围内一直存在争议。本研究阐明了基于提示围产期条件的先天性巨细胞病毒感染的靶向筛查方案的结果。此外,将阳性率与报道的研究结果进行了比较,并讨论了靶向筛查标准的有效性。2018年10月至2021年10月,我院共收治新生儿2121例。采用等温核酸扩增法对有以下情况之一的新生儿尿液样本进行巨细胞病毒DNA检测:小头畸形、脑及内脏器官超声异常、新生儿听力筛查反复失败、妊娠期母体疑似巨细胞病毒感染,以及其他提示先天性巨细胞病毒感染的异常表现。在2121例新生儿中,102例(4.8%)按上述标准行尿巨细胞病毒DNA检测。其中3例巨细胞病毒dna阳性。根据该方案,总入组2121例新生儿巨细胞病毒dna阳性率为0.14%,目标新生儿阳性率为2.9%(3/102)。该方案可能忽略了先天性巨细胞病毒感染,无症状或仅在出生时表现出不明显的临床表现;然而,它是可行的,并有助于导致先天性巨细胞病毒感染的诊断,否则可能被忽视。
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来源期刊
Congenital Anomalies
Congenital Anomalies PEDIATRICS-
自引率
0.00%
发文量
49
审稿时长
>12 weeks
期刊介绍: Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.
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