Schleiss Mark R, Blázquez-Gamero Daniel
Department of Pediatrics, Division of Pediatric Infectious Diseases, Medical School, University of Minnesota, Minneapolis, MN, USA.
Pediatric Infectious Diseases Unit, Hospital Universitario 12 de Octubre, Instituto de Investigación Hospital 12 de Octubre, Translational Research Network in Pediatric Infectious Diseases, Universidad Complutense, Madrid, Spain.
Lancet Child Adolesc Health. 2025 Jan;9(1):57-70. doi: 10.1016/S2352-4642(24)00237-2.
Congenital cytomegalovirus (CMV) infection is the leading infectious cause of childhood disability, in particular sensorineural hearing loss (SNHL). Timeliness of diagnosis is crucial, since the presence of CMV in any compartment (eg, blood, urine, or saliva) after age 21 days can mean postnatal acquisition of infection, particularly in breastfed infants. Given these issues, there is considerable interest in implementation of screening programmes-either universal screening (where all newborns are tested) or targeted screening. Targeted screening is typically based on the outcome of a newborn hearing screen, and can be influenced in some strategies by findings of other signs suggestive of congenital CMV. Universal screening is likely to have the greatest overall benefit. Early identification of congenital CMV allows for interventions such as antiviral therapy (when indicated) and enables anticipatory audiological monitoring that facilitates timely detection of delayed-onset SNHL. However, there are debates about the effectiveness of screening programmes. Most infants with congenital CMV are unaffected and do not appear to be at risk for adverse neurodevelopment outcomes, except for SNHL. Screening can, therefore, raise unwarranted concern among parents and clinicians in these cases. The best clinical sample for diagnostic testing is unclear. PCR testing of saliva is sensitive but has a risk of yielding false-positive results in infants without congenital CMV. Resolving the technological issues has improved the sensitivity of dried blood spot (DBS) PCR but the technique remains suboptimum. An advantage to DBS PCR testing is that an infrastructure exists to add this test to existing newborn screening programmes. In this Review, the advantages and disadvantages of congenital CMV screening are discussed, along with high-priority areas for future research that will inform and direct this rapidly evolving field.
先天性巨细胞病毒（CMV）感染是导致儿童残疾的主要感染原因，尤其是感音神经性听力损失（SNHL）。诊断的及时性至关重要，因为出生21天后任何部位（如血液、尿液或唾液）检测到CMV可能意味着出生后获得感染，尤其是母乳喂养的婴儿。鉴于这些问题，人们对实施筛查计划（普遍筛查或目标性筛查）有着浓厚兴趣。目标性筛查通常基于新生儿听力筛查的结果，在某些策略中可能会受到其他提示先天性CMV的体征结果的影响。普遍筛查可能总体益处最大。先天性CMV的早期识别可进行抗病毒治疗（如有指征）等干预措施，并能进行前瞻性听力监测，有助于及时发现迟发性SNHL。然而，关于筛查计划的有效性存在争议。大多数先天性CMV感染的婴儿未受影响，除了SNHL外似乎没有不良神经发育结局的风险。因此，在这些情况下，筛查可能会引起家长和临床医生不必要的担忧。用于诊断检测的最佳临床样本尚不清楚。唾液的PCR检测敏感，但在无先天性CMV的婴儿中有产生假阳性结果的风险。解决技术问题提高了干血斑（DBS）PCR的敏感性，但该技术仍不理想。DBS PCR检测的一个优点是存在将此检测纳入现有新生儿筛查计划中的基础设施。在本综述中，讨论了先天性CMV筛查的优缺点，以及未来研究的高度优先领域，这些研究将为这个快速发展的领域提供信息并指导其发展。
