Herini Elisabeth Siti, Triono Agung, Iskandar Kristy, Nurputra Dian Kesumapramudya, Nugrahanto Andika Priamas, Korompis Marcellus, Nuady Albaaza, Anggraini Alifah, Indraswari Braghmandita Widya, Arafuri Nadya, Prasetyo Ashadi
From the Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.
Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/UGM Academic Hospital, Yogyakarta, Indonesia.
Pediatr Infect Dis J. 2025 Apr 29;44(9):853-859. doi: 10.1097/INF.0000000000004839.
Confirming the detection of rubella virus (RUBV) genotypes is crucial for tracking the transmission and evolution of the virus, which is essential for eliminating rubella. Reverse transcription-polymerase chain reaction (RT-PCR) plays a crucial role in identifying the viral genotype, but it comes with various challenges from sample collection to data interpretation. The present study aimed to explore the complexities of confirming the detection of RUBV in patients with congenital rubella infection using RT-PCR, discussing potential pitfalls and optimization strategies.
From July 2019 to December 2021, we isolated the RUBV from throat swabs, lens materials, and urine samples obtained from patients with serologically confirmed and clinically compatible congenital rubella syndrome (CRS). The case definition and final classification of CRS were adapted from the World Health Organization-recommended CRS surveillance standard. We utilized the RT-PCR assay to detect the presence of RUBV ribonucleic acid (RNA).
During the study period, 126 patients with suspected CRS underwent complete clinical and serological examinations. Of these, 30 patients were included, and 22 were laboratory-confirmed. Using RT-PCR, RUBV was detected in only 42.1% of the laboratory-confirmed group. Overall, the lens material showed the highest positivity for detecting RUBV RNA. No correlation was found between the cycle threshold values and patient age at viral RNA testing.
The present study underscores the critical need for a multifaceted approach for accurately diagnosing CRS, particularly in the context of rubella elimination efforts. RT-PCR testing can be particularly useful for diagnosing CRS in patients over 12 months of age. By addressing the challenges and building upon the insights gained from our research, healthcare systems can enhance CRS diagnosis, guide timely interventions and ultimately contribute to the global rubella.
确认风疹病毒(RUBV)基因型对于追踪病毒的传播和进化至关重要,这对消除风疹至关重要。逆转录聚合酶链反应(RT-PCR)在识别病毒基因型方面起着关键作用,但从样本采集到数据解读面临各种挑战。本研究旨在探讨使用RT-PCR确认先天性风疹感染患者中RUBV检测的复杂性,讨论潜在陷阱和优化策略。
2019年7月至2021年12月,我们从血清学确诊且临床符合先天性风疹综合征(CRS)患者的咽拭子、晶状体材料和尿液样本中分离出RUBV。CRS的病例定义和最终分类采用世界卫生组织推荐的CRS监测标准。我们利用RT-PCR检测法检测RUBV核糖核酸(RNA)的存在。
在研究期间,126例疑似CRS患者接受了全面的临床和血清学检查。其中,30例患者被纳入研究,22例经实验室确诊。使用RT-PCR,仅在42.1%的实验室确诊组中检测到RUBV。总体而言,晶状体材料在检测RUBV RNA方面显示出最高的阳性率。在病毒RNA检测时,循环阈值与患者年龄之间未发现相关性。
本研究强调了采用多方面方法准确诊断CRS的迫切需求,特别是在风疹消除工作的背景下。RT-PCR检测对于诊断12个月以上患者的CRS可能特别有用。通过应对挑战并基于我们研究中获得的见解,医疗保健系统可以加强CRS诊断,指导及时干预并最终为全球风疹防治做出贡献。