Objective: To examine the accuracy of fetal RHD genotype and RHD pseudogene determination in a multiethnical population.
Methods: Prospective study involving D-negative pregnant women. Cell-free DNA was extracted from 1 ml of maternal plasma by an automated system (MagNA Pure Compact, Roche) and real-time PCR was performed in triplicate targeting the RHD gene exons 5 and 7. Inconclusive samples underwent RHD pseudogene testing by real-time PCR analysis employing novel primers and probe.
Results: A positive result was observed in 128/185 (69.2%) samples and negative in 50 (27.0%). Umbilical cord blood phenotype confirmed all cases with a positive or negative PCR result. Seven (3.8%) cases were found inconclusive (exon 7 amplification only) and RHD pseudogene testing with both conventional and real-time PCR demonstrated a positive result in five of them, while two samples were also RHD pseudogene negative.
Conclusion: Real-time PCR targeting RHD exons 5 and 7 simultaneously in maternal plasma is an accurate method for the diagnosis of fetal D genotype in our population. The RHD pseudogene real-time PCR assay is feasible and is particularly useful in populations with a high prevalence of this allele.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6816963 | PMC |
| http://dx.doi.org/10.1002/jcla.22052 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical Validation of a Prenatal Cell-Free DNA Screening Test for Fetal RHD in a Large U.S. Cohort.
Obstet Gynecol
November 2024
Delaware Center for Maternal Fetal Medicine, Newark, Delaware; and Natera, Inc., San Carlos, California.
Objective: To present a large U.S. clinical validation of a next-generation sequencing-based, noninvasive prenatal cell-free DNA test for fetal RHD.
View Article and Find Full Text PDFThe use of free DNA for fetal RHD genotyping in the Rh negative pregnant patient-the time has come.
Am J Obstet Gynecol
August 2024
Department of Women's Health, Dell Medical School - UT Health Austin and the Comprehensive Fetal Center Dell Children's Medical Center, Austin, TX. Electronic address:
Article Synopsis
- Several European countries successfully integrated this method into their routine prenatal care, while it has recently been adopted by two U.S. companies using next-gen sequencing technology.
- With a current shortage of RhoGAM, there’s a push to use these reliable DNA assays in the U.S. to optimize the use of Rhesus immune globulin for RhD-negative pregnant women.
RHD Positive Haplotype in D Negative Omani Blood Donor.
Oman Med J
March 2023
Central Blood Bank, Ministry of Health, Muscat, Oman.
The frequency of Rhesus D negative blood group in Omanis is 8.35% but the molecular background of this phenotype is unknown in the Omani population. The Rhesus D negative phenotype has a high molecular diversity.
View Article and Find Full Text PDFA multi-centre study on the performance of the molecular genotyping platform ID RHD XT for resolving serological weak RhD phenotype in routine clinical practice.
Vox Sang
April 2020
Nordic Reference Laboratory for Genomic Blood Group Typing, Lund University Hospital, Lund, Sweden.
Background And Objectives: There is concern regarding the lack of prevention of unnecessary transfusion of RhD negative red cells and unnecessary administration of Rh immunoglobulin (RhIG) to pregnant women. In this study, performance of ID RHD XT, a genotyping assay for identification of six RHD allelic variants and human platelet antigens HPA-1a/1b was assessed.
Materials And Methods: Whole blood samples presenting weak, discrepant or inconclusive D phenotype results were genotyped with ID RHD XT and compared to reference molecular tests.
Molecular analysis of the RHD pseudogene by duplex real-time polymerase chain reaction.
Transfus Med
April 2019
Fundação Centro de Hematologia e Hemoterapia de Minas Gerais-Hemominas, Belo Horizonte, Minas Gerais, Brazil.
Objectives: In this study, we aimed to present a strategy for the detection of the RHD pseudogene (RHDψ) based on a real-time polymerase chain reaction (PCR) assay.
Background: The D-negative phenotype is associated with many genetic alterations. In populations with African ancestry, this phenotype commonly results from the silent variant RHDψ.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!