Department of Clinical Immunology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Nordic Reference Laboratory for Genomic Blood Group Typing, Department of Clinical Immunology and Transfusion Medicine, Office of Medical Services, Lund, Sweden.
Vox Sang. 2020 Jul;115(5):466-471. doi: 10.1111/vox.12908. Epub 2020 Mar 12.
Fetal RHD genotyping of cell-free maternal plasma DNA from RhD negative pregnant women can be used to guide targeted antenatal and postnatal anti-D prophylaxis for the prevention of RhD immunization. To assure the quality of clinical testing, we conducted an external quality assessment workshop with the participation of 31 laboratories.
Aliquots of pooled maternal plasma from gestational week 25 were sent to each laboratory. One sample was fetal RHD positive, and a second sample was fetal RHD negative. A reporting scheme was supplied for data collection, including questions regarding the methodological setup, results and clinical recommendations. The samples were tested blindly.
Different methodological approaches were used; 29 laboratories used qPCR and two laboratories used ddPCR, employing a total of eight different combinations of RHD exon targets. Fetal RHD genotyping was performed with no false-negative and no false-positive results. One inconclusive result was reported for the RHD positive sample. All clinical conclusions were satisfactory.
This external quality assessment workshop demonstrates that despite the different approaches taken to perform the clinical assays, fetal RHD genotyping is a reliable laboratory assay to guide targeted use of Rh prophylaxis in a clinical setting.
从 RhD 阴性孕妇的游离母体外周血 DNA 中进行胎儿 RHD 基因分型，可用于指导针对产前和产后抗 D 预防措施，以预防 RhD 免疫。为确保临床检测质量，我们组织了一次有 31 个实验室参与的外部质量评估研讨会。
将妊娠 25 周的混合母体外周血浆样本分发给每个实验室。一个样本是胎儿 RHD 阳性，第二个样本是胎儿 RHD 阴性。提供了一个报告方案用于数据收集，包括关于方法设置、结果和临床建议的问题。样品是盲检的。
使用了不同的方法学方法；29 个实验室使用 qPCR，2 个实验室使用 ddPCR，总共使用了 8 种不同的 RHD 外显子靶标组合。胎儿 RHD 基因分型结果无假阴性和假阳性。对 RHD 阳性样本报告了一个不确定的结果。所有临床结论均令人满意。
本次外部质量评估研讨会表明，尽管进行临床检测的方法不同，但胎儿 RHD 基因分型是一种可靠的实验室检测方法，可用于指导临床环境中针对 Rh 预防措施的靶向应用。
