School of Computer Science and Engineering, The Hebrew University of Jerusalem, Jerusalem, Israel.
Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Nat Med. 2024 Apr;30(4):1111-1117. doi: 10.1038/s41591-024-02873-3. Epub 2024 Mar 8.
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.
先天性巨细胞病毒(cCMV)是最常见的宫内感染,可导致神经发育障碍。目前越来越提倡对所有新生儿进行 cCMV 普遍筛查。在缺乏高通量筛查试验的情况下,无法识别所有感染的新生儿,因此开发准确、高效的检测策略仍然是一个持续的挑战。在这里,我们评估了在 2022 年 4 月至 2023 年 4 月期间,耶路撒冷的两家医院对先天性巨细胞病毒进行普遍筛查时,采用混合唾液聚合酶链反应(PCR)检测的实施情况。在 13 个月的研究期间,采用混合方法对 15805 名婴儿(所有活产新生儿的 93.6%)进行了 cCMV 筛查,该方法已成为我们的常规筛查方法。混合检测的经验效率为六(每次检测的新生儿数量),从而节省了 83%的唾液检测。混合检测仅观察到 3.05 个 PCR 循环的轻微敏感性损失,这符合对 8 个样本混合池的理论预测。在 54 名新生儿中发现了 cCMV,出生患病率为每 1000 名 3.4 例;在被确定为 cCMV 的婴儿中,55.6%在出生时无症状,如果不进行其他筛查,这些婴儿可能不会被纳入筛查。该研究表明,混合唾液检测作为一种高效、节省成本且敏感的 cCMV 普遍筛查方法具有广泛的可行性和益处。