在一个中心使用干血斑诊断出生后21天内的先天性巨细胞病毒。

IF 4 Q1 GENETICS & HEREDITY International Journal of Neonatal Screening Pub Date : 2023-08-04 DOI:10.3390/ijns9030044
Ana Del Valle Penella, Jerry Miller, Ryan Rochat, Gail Demmler-Harrison
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引用次数: 0

摘要

在这项回顾性研究中,我们旨在评估干血斑(DBS)检测作为先天性巨细胞病毒(cCMV)诊断方法的性能。我们回顾了89例患者的医疗记录和DBS测试结果,这些患者在出生后的前21天内也进行了诊断性cCMV测试。DBS检测的敏感性为83.9%,特异性为100%,阳性预测值为100%,阴性预测值为73%。根据PCR结果,DBS真阳性的患者血液中巨细胞病毒的中位水平高于假阴性的患者。此外,所有cCMV和听力损失患者的DBS检测均为阳性,听力损失患者的中位病毒血症水平高于未进行CMV PCR血液检测的患者。这些结果表明,基于dbs的检测在cCMV的诊断中是有用的,其性能可能与CMV病毒血症水平有关。DBS测试准确地识别出先天性/早发性听力损失患者和有发展为晚发性听力损失风险的患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Utility of Dried Blood Spots for the Diagnosis of Congenital Cytomegaloviruses within the First 21 Days of Life in a Single Center.

In this retrospective study, we aimed to evaluate the performance of dried-blood-spot (DBS) testing as a diagnostic method for the congenital cytomegalovirus (cCMV). We reviewed the medical records and DBS test results of 89 patients who had also undergone diagnostic cCMV testing within the first 21 days of life. The DBS test had a sensitivity of 83.9%, a specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 73%. Patients with a true-positive DBS had a higher median level of CMV in blood according to PCR than those with a false-negative result. Additionally, all patients with cCMV and hearing loss had a positive DBS test, with higher median viremia levels observed in those with hearing loss compared to those without a CMV PCR blood test. These results suggest that DBS-based testing is useful in the diagnosis of cCMV, and its performance may be related to levels of CMV viremia. DBS testing accurately identified those patients with congenital/early onset hearing loss and those at risk of developing late-onset hearing loss.

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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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