Anti-D in pregnant women with the RHD(IVS3+1G>A)-associated DEL phenotype.
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.


METHODS
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.


CONCLUSIONS
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.
Centre for Maternal Fetal Medicine, Mater Mothers Hospital, Mater Health Services, South Brisbane, Queensland, Australia.
Glenn J
GJ
Gardener
Tobias J
TJ
Legler
Jonathan A
JA
Hyett
Yew-Wah
YW
Liew
Robert L
RL
Flower
Catherine A
CA
Hyland
D000328:Adult; D001315:Australia; D005260:Female; D005858:Germany; D006801:Humans; D007231:Infant, Newborn; D007518:Isoantibodies / Q000097:blood*; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000502:physiology; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000097:blood / Q000235:genetics; D037841:Pregnant People; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D018029:Rho(D) Immune Globulin; D055815:Young Adult
D007518:Isoantibodies; C061961:RHO(D) antibody; D012204:Rh-Hr Blood-Group System; D018029:Rho(D) Immune Globulin; C026410:Rho(D) antigen