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Anti‐D in pregnant women with the RHD (IVS3+1G>A)‐associated DEL phenotype
Author(s) -
Gardener Glenn J.,
Legler Tobias J.,
Hyett Jonathan A.,
Liew YewWah,
Flower Robert L.,
Hyland Catherine A.
Publication year - 2012
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/j.1537-2995.2011.03538.x
Subject(s) - genotyping , hemolytic disease of the newborn (abo) , fetus , medicine , pregnancy , allele , serology , phenotype , genotype , immunology , obstetrics , antibody , biology , genetics , gene
BACKGROUND: Pregnant women with the DEL phenotype appear to be D– by routine serology. Women with DEL phenotypes that show a partial D‐like epitope loss may develop anti‐D. It has been proposed that this alloantibody could have a deleterious effect with respect to hemolytic disease in the fetus and newborn. CASE REPORTS: Two pregnant women, one in Australia and one in Germany, were serotyped as D– and were sensitized to the D antigen. Noninvasive fetal RHD genotyping was performed to plan pregnancy management. RESULTS: In both cases the fetal RHD status could not be assigned due to the presence of a maternal DEL allele. This was suspected through detection of high RHD amplicon levels during quantitative polymerase chain reaction. For both cases extended molecular typing of the maternal genomic DNA revealed a RHD (IVS3+1G>A) allele. For case one, the D+ infant developed a mild hemolytic disease requiring phototherapy. In the second case a D– (or DEL) newborn was unaffected. CONCLUSION: Fetal genotyping from maternal plasma reveals RHD variants in pregnant women with anti‐D. Fetuses and newborns of sensitized pregnant women carrying the RHD (IVS3+1G>A) allele are at risk of hemolytic disease.