Noninvasive fetal RHD genotyping to guide targeted anti-D prophylaxis-an external quality assessment workshop.

Clausen, Frederik Banch; Barrett, Angela Natalie (2019). Noninvasive fetal RHD genotyping to guide targeted anti-D prophylaxis-an external quality assessment workshop. Vox sanguinis, 114(4), pp. 386-393. Wiley-Blackwell 10.1111/vox.12768

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Background and Objectives: FetalRHDgenotyping of cell-free fetal DNA fromRhD-negative pregnant women can be used to guide targeted antenatal and post-natal anti-D prophylaxis for the prevention of RhD immunization. To assure thequality of clinical testing, we conducted an external quality assessment workshopwith the participation of 28 laboratories. Materials and Methods: Aliquots of pooled maternal plasma were sent to eachlaboratory. One sample was positive, and the second sample was negative forfetalRHD, verified by pre-workshop testing using quantitative real-time PCR(qPCR) analysis ofRHDexons 4, 5, 7 and 10. Plasma samples were shipped atroom temperature. A reporting scheme was supplied for data collection, includingquestions regarding the methodological setup, results and clinical recommenda-tions. Different methodological approaches were used, all employing qPCR with atotal of eight different combinations ofRHDexon targets. The samples weretested blindly. Results: FetalRHDgenotyping was performed with no false-negative and nofalse-positive results. One inconclusive result was reported for theRHD-positivesample, and four inconclusive results were reported for theRHD-negative sample.All clinical conclusions were satisfactory. Conclusion: This external quality assessment workshop demonstrates that despitethe different approaches taken to perform the clinical assays, fetalRHDgenotyp-ing is a reliable laboratory assay to guide targeted use of Rh prophylaxis in aclinical setting.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Service Sector > Institute for Infectious Diseases > Research


500 Science > 570 Life sciences; biology








Christoph Niederhauser-Lüthi

Date Deposited:

28 Aug 2019 16:20

Last Modified:

23 Oct 2019 04:33

Publisher DOI:


PubMed ID:


Additional Information:

Christoph Niederhauser is a member of the Noninvasive Fetal RHD Genotyping EQA2017 Working Group




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