爱尔兰6年胎儿RHD筛查的评价:从实施到实践。

IF 1.6 4区 医学 Q3 HEMATOLOGY
Vox Sanguinis Pub Date : 2025-09-10 DOI:10.1111/vox.70107
Helen Ryan, Mark Lambert, Sorcha Ní Loingsigh, Richard Hagan, Diarmaid O'Donghaile
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引用次数: 0

摘要

背景和目的:母体血浆中循环胎儿DNA的发现使无创产前检测(NIPT)能够用于靶向抗- d预防。2019年,爱尔兰实施了一项内部测试来指导这种护理。在这里,我们报告了6年的服务。材料与方法:从孕龄(GA) bb0 ~ 11周RhD阴性孕妇1000 μ l血浆中提取无细胞胎儿DNA (cffDNA)。使用RHD外显子7和10的多重分析,对三份样品进行RHD定量PCR检测。结果:在20,099份样本中,预测RhD阳性的占58.2%,预测RhD阴性的占36.9%。52例出现差异:7例(0.03%)预测RhD阴性但脐带RhD阳性,45例(0.2%)预测RhD阳性但脐带RhD阴性。结论:该检测确保7400多名妇女避免了不必要的抗- d预防。结果差异不大,假阴性由于抗- d被隐瞒,临床风险更大,增加了免疫风险。其中三起与分析前错误有关,导致程序发生变化。由于胎儿RHD筛查的成功,脐带血检测已在一些国家停止;这种做法可以在爱尔兰进行审查。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluation of 6 years of fetal RHD screening in Ireland: From implementation to practice.

Background and objectives: The discovery of circulating fetal DNA in maternal plasma enabled non-invasive prenatal testing (NIPT) for targeted anti-D prophylaxis. In 2019, Ireland implemented an in-house test to guide this care. Here, we report 6 years of service.

Materials and methods: Cell-free fetal DNA (cffDNA) was extracted from 1000-μL plasma from pregnant RhD negative women at gestation age (GA) > 11 weeks. Samples were tested in triplicate for RHD by quantitative PCR using a multiplex assay of RHD exons 7 and 10.

Results: Of the 20,099 samples tested, 58.2% were predicted RhD positive and 36.9% were predicted RhD negative. Discrepancies were seen in 52 cases: 7 (0.03%) were predicted RhD negative but cord RhD positive and 45 (0.2%) were predicted RhD positive but cord RhD negative.

Conclusion: This test has ensured that over 7400 women have avoided unnecessary anti-D prophylaxis. There were few discrepant results, with false negatives posing a greater clinical risk due to withheld anti-D, increasing immunization risk. Three were linked to pre-analytical errors prompting procedural changes. Due to the success of fetal RHD screening, cord blood testing has been discontinued in some countries; a practice which could be reviewed in Ireland.

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来源期刊
Vox Sanguinis
Vox Sanguinis 医学-血液学
CiteScore
4.40
自引率
11.10%
发文量
156
审稿时长
6-12 weeks
期刊介绍: Vox Sanguinis reports on important, novel developments in transfusion medicine. Original papers, reviews and international fora are published on all aspects of blood transfusion and tissue transplantation, comprising five main sections: 1) Transfusion - Transmitted Disease and its Prevention: Identification and epidemiology of infectious agents transmissible by blood; Bacterial contamination of blood components; Donor recruitment and selection methods; Pathogen inactivation. 2) Blood Component Collection and Production: Blood collection methods and devices (including apheresis); Plasma fractionation techniques and plasma derivatives; Preparation of labile blood components; Inventory management; Hematopoietic progenitor cell collection and storage; Collection and storage of tissues; Quality management and good manufacturing practice; Automation and information technology. 3) Transfusion Medicine and New Therapies: Transfusion thresholds and audits; Haemovigilance; Clinical trials regarding appropriate haemotherapy; Non-infectious adverse affects of transfusion; Therapeutic apheresis; Support of transplant patients; Gene therapy and immunotherapy. 4) Immunohaematology and Immunogenetics: Autoimmunity in haematology; Alloimmunity of blood; Pre-transfusion testing; Immunodiagnostics; Immunobiology; Complement in immunohaematology; Blood typing reagents; Genetic markers of blood cells and serum proteins: polymorphisms and function; Genetic markers and disease; Parentage testing and forensic immunohaematology. 5) Cellular Therapy: Cell-based therapies; Stem cell sources; Stem cell processing and storage; Stem cell products; Stem cell plasticity; Regenerative medicine with cells; Cellular immunotherapy; Molecular therapy; Gene therapy.
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