Clausen Frederik Banch, Hellberg Åsa, Toly-Ndour Cécile, Nielsen Emilie Thorup, de Haas Masja
Laboratory of Blood Genetics, Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
cfDNA Subgroup from the International Society of Blood Transfusion (ISBT) Working Party on Red Cell Immunogenetics and Blood Group Terminology (RCIBGT), Amsterdam, The Netherlands.
Vox Sang. 2025 Jun 9. doi: 10.1111/vox.70062.
Noninvasive fetal antigen genotyping can assist the management of immunized pregnant women, and fetal RHD genotyping can be used as a screening assay to guide restricted use of Rh prophylaxis. Based on a survey, we present an overview of the implementation of noninvasive fetal antigen genotyping into clinical practice.
A survey was developed and sent out to the members of the International Society of Blood Transfusion (ISBT) working party on Red Cell Immunogenetics and Blood Group Terminology and to participants of the international noninvasive fetal RHD genotyping programme from the Danish Institute for External Quality Assurance for Laboratories in the health sector (DEKS). The survey contained four sections: fetal RHD screening, fetal RHD genotyping for RhD immunized women, fetal genotyping of other antigen targets than RhD and a section for collecting topics for future collaboration. The survey data were evaluated by the core author group.
Fifty-two survey responders were from 22 countries. Fetal RHD screening was implemented by 73%, foremost using real-time PCR with in-house assays, primarily, or commercially available kits. Most laboratories use the same assay for RhD immunized women. Thirty-eight percent of the responders test for other antigen targets than RhD, using either real-time PCR, droplet digital PCR (ddPCR) or DNA sequencing. There was an interest in collaborations on topics across methodology, technology, strategy and health care regulations.
In general, we found that noninvasive fetal blood group antigen genotyping is well implemented. However, our results are biased towards high-income countries, Europe and laboratories already running noninvasive fetal antigen genotyping.
无创胎儿抗原基因分型有助于免疫孕妇的管理，胎儿RHD基因分型可作为一种筛查检测方法，以指导Rh预防措施的合理使用。基于一项调查，我们概述了无创胎儿抗原基因分型在临床实践中的实施情况。
制定了一项调查并发送给国际输血协会（ISBT）红细胞免疫遗传学和血型术语工作组成员以及丹麦卫生部门实验室外部质量保证研究所（DEKS）国际无创胎儿RHD基因分型项目的参与者。该调查包含四个部分：胎儿RHD筛查、RhD免疫妇女的胎儿RHD基因分型、RhD以外其他抗原靶点的胎儿基因分型以及一个收集未来合作主题的部分。调查数据由核心作者团队进行评估。
52名调查受访者来自22个国家。73%的机构实施了胎儿RHD筛查，主要使用实时荧光定量PCR，采用内部检测方法，或使用商业试剂盒。大多数实验室对RhD免疫妇女使用相同的检测方法。38%的受访者检测RhD以外的其他抗原靶点，采用实时荧光定量PCR、微滴式数字PCR（ddPCR）或DNA测序。对于跨方法学、技术、策略和医疗保健法规的主题合作存在兴趣。
总体而言，我们发现无创胎儿血型抗原基因分型实施良好。然而，我们的结果偏向于高收入国家、欧洲以及已经开展无创胎儿抗原基因分型的实验室。
