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期刊来源：Nat Med

原文链接：https://doi.org/10.1038/s41591-024-02873-3

摘要内容如下：

先天性巨细胞病毒（congenital cytomegalovirus，CCMV）是最常见的宫内感染，可导致神经系统发育障碍。越来越多地提倡对新生儿进行CCMV的普遍筛查。在缺乏能够识别所有受感染新生儿的高通量筛查检测的情况下，开发准确有效的检测策略仍然是一个持续的挑战。在此，我们评估了从2022年4月到2023年4月在耶路撒冷的两家医院实施的混合唾液聚合酶链反应（PCR）检测用于CCMV的普遍筛查。在为期13个月的研究期间，15，805名婴儿（占所有存活新生儿的93.6%）使用混合方法进行了CCMV筛查，该方法已成为我们的常规筛查方法。合并的经验效率为6（每次测试的新生儿人数），从而节省了83%的唾液测试。根据对8个样品池的理论预测，在合并测试中仅观察到较小的3.05 PCR循环灵敏度损失。在54名新生儿中发现了CCMV，出生患病率为3.4‰；55.6%患有CCMV的婴儿在出生时无症状，否则不会成为筛查的目标。该研究证明了混合唾液检测作为一种高效、低成本和敏感的CCMV普遍筛查方法的广泛可行性和益处。

英文原文如下：

Abstracts

Congenital cytomegalovirus (cCMV) is the most common intrauterine infection, leading to neurodevelopmental disabilities. Universal newborn infant screening of cCMV has been increasingly advocated. In the absence of a high-throughput screening test, which can identify all infected newborn infants, the development of an accurate and efficient testing strategy has remained an ongoing challenge. Here we assessed the implementation of pooled saliva polymerase chain reaction (PCR) tests for universal screening of cCMV, in two hospitals of Jerusalem from April 2022 through April 2023. During the 13-month study period, 15,805 infants (93.6% of all live newborn infants) were screened for cCMV using the pooled approach that has since become our routine screening method. The empirical efficiency of the pooling was six (number of tested newborn infants per test), thereby sparing 83% of the saliva tests. Only a minor 3.05 PCR cycle loss of sensitivity was observed for the pooled testing, in accordance with the theoretical prediction for an eight-sample pool. cCMV was identified in 54 newborn infants, with a birth prevalence of 3.4 per 1,000; 55.6% of infants identified with cCMV were asymptomatic at birth and would not have been otherwise targeted for screening. The study demonstrates the wide feasibility and benefits of pooled saliva testing as an efficient, cost-sparing and sensitive approach for universal screening of cCMV.

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