RhD status of a fetus at risk for haemolytic disease with a discrepant maternal DNA-based RhD genotype

Denomme, Gregory A.; Akoury, Hani; Sermer, Mathew; Kelton, John G.

doi:10.1002/(sici)1097-0223(199905)19:5<424::aid-pd562>3.0.co;2-7

Cited by 7 publications

(6 citation statements)

References 23 publications

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“…In addition, our data show that the existing PCR-based methods for prenatal determination of fetal RhD status from DNA samples (Lo et al 1993) are not suitable for testing the Chinese population. The same situation was also observed in other populations, in which some RhD-negative mothers were found to carry a nonfunctional RHD gene (Okuda et al 1997;Denomme et al 1999). It is necessary to establish the structure of the RH locus for different ethnic groups before DNA-based RhD genotyping is performed.…”

Section: Discussionsupporting

confidence: 58%

“…F and R indicate forward and reverse primer, respectively Determined by the DNA-based sequence-specific primers polymerase chain reaction typing method described in the text almost invariably, lack the RHD gene (Daniels 1995). This finding not only explains finally why no postulated Rh d antigen has ever been shown, but also makes it possible to determine the RhD status of fetuses at risk for HDN, using a DNA-based SSP-PCR technique (Lo et al 1993;Denomme et al 1999). Later studies, however, have revealed that RhD-negative individuals may have different genetic backgrounds.…”

Section: Discussionmentioning

confidence: 99%

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Genetic polymorphism of RhD-negative associated haplotypes in the Chinese

Lei

Chen

et al. 2000

J Hum Genet

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The Rh blood group is the most polymorphic human blood group system, and is clinically significant in transfusion medicine. Individuals are classified as Rhpositive and Rh-negative depending on the presence or absence of the D antigen on the red cell surface. The RhDnegative trait could be generated by multiple genetic mechanisms, which have been shown to be ethnic groupdependent. In this study, we evaluated the status of seven RHD-specific exons (exons 3, 4, 5, 6, 7, 9, and 10) and RH intron 4 in 119 Chinese blood donors, using the sequencespecific primers polymerase chain reaction (SSP-PCR). Of the 87 individuals who were RhD-negative, 52 with the ce/ ce, ce/cE, or Ce/ce genotype (60%) lacked the above seven RHD exons; 22 with the Ce/Ce or Ce/ce genotype (25%) had all the RHD exons examined; 13 with the Ce/ce genotype (15%) carried at least one RHD exon. Antigen association analysis suggested the existence of a novel class of RhD-negative associated haplotypes in the Chinese, tentatively denoted D(nf)Ce. The D(nf)Ce haplotype consisted of a normal RHCe allele and a nonfunctional RHD gene, which vary depending on the structure of the RHD gene. Among the RhD-negative Chinese, the estimated frequencies of the dce, dCe, and D(nf)Ce haplotypes were 0.7500, 0.0465, and 0.2035, respectively. No statistically significant deviation from Hardy-Weinberg equilibrium was observed using this genetic model.

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Section: Discussionsupporting

confidence: 58%

Section: Discussionmentioning

confidence: 99%

Genetic polymorphism of RhD-negative associated haplotypes in the Chinese

Lei

Chen

et al. 2000

J Hum Genet

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“…These data strongly support a cautious attitude towards DNA typing as the sole predictor of a Rh phenotype, a point that has already been made for Rh D and Rh C antigens by others [22–24]. Noizat‐Pirenne's data (which show false‐positive PCR–SSP typing for the Rh E antigen owing to a silent RHE allele) [18] and ours (that illustrates false‐negative DNA typing for the Rh e antigen), demonstrate that this limitation holds true also for Rh E/e DNA typing.…”

Section: Discussionsupporting

confidence: 84%

RHCE‐D‐CE hybrid genes can cause false‐negative DNA typing of the Rh e antigen

Hundhausen¹,

Petershofen²,

Doescher³

et al. 2002

Vox Sanguinis

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“…suggest that RHD typing should include exons 4 to 5 and 10. A test to exclude the presence of the RHDψ must accompany the test for fetal RHD 29,30 . The program at Mount Sinai Hospital, Toronto uses RHD exon mapping to detect fetal RHD (see Fig.…”

Section: Allelic Variants Of Blood Group Antigensmentioning

confidence: 99%

Fetal blood group genotyping

Denomme

Fernandes

2007

Transfusion

Self Cite

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Blood group genotyping using DNA extracted from fetal tissue is useful to identify fetuses at risk for hemolytic disease of the fetus and newborn (HDFN) due to maternal red cell alloantibodies. Four considerations are important for fetal blood group genotyping. First, paternal heterozygosity must be established, including tests that evaluate RHD hemizygosity. Second, the source of fetal tissue for DNA extraction requires certain considerations. Third, because the fetal genotype is used to predict the expressed phenotype, a thorough knowledge of blood group genetics is required. Moreover, the test algorithm should include the evaluation of the parental phenotypes and genotypes to help identify variant alleles. Fourth, the blood group antigen expression at birth should be evaluated to confirm the inheritance. The identification of an antigen-negative fetus on the basis of the blood group genotype provides significant advantages in managing the pregnancy at risk for HDFN. In the near future, fetal DNA in maternal plasma will likely replace fetal blood group genotyping for RHD. Significant challenges remain to detect other clinically significant blood group antigens using maternal plasma DNA.

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RhD status of a fetus at risk for haemolytic disease with a discrepant maternal DNA-based RhD genotype

Cited by 7 publications

References 23 publications

Genetic polymorphism of RhD-negative associated haplotypes in the Chinese

Genetic polymorphism of RhD-negative associated haplotypes in the Chinese

RHCE‐D‐CE hybrid genes can cause false‐negative DNA typing of the Rh e antigen

Fetal blood group genotyping

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