title: Determination of RHD zygosity using real-time quantitative PCR.
abstract: At present RHD incompatibility is still an obstetric problem despite prophylactic treatment. A very welcome recent technical advance has now made it possible to determine the foetal RHD status in a non-invasive risk-free manner using cell free foetal DNA in maternal plasma. In some cases, however, where there is a high risk that the foetus may be affected by HDN (haemolytic disease of the newborn), it may be of interest to determine whether the father is hetero- or homozygous for the RHD gene, since in the former instance there is only a 50% chance that the pregnancy is affected. It has recently been shown that quantitative PCR assays, in particular real-time Taqman PCR, can be used to determine the RHD gene dosage, and also to determine foetal aneuploidies. We demonstrate that the same real-time Taqman PCR assay we had previously developed for non-invasive analysis of the foetal RHD gene and the foetal Y chromosome from maternal plasma can be used to determine the paternal RHD genotype.
authors.affiliation: University Wommen's Hospital / Department of Research, University of Basel, Switzerland.
authors.forename: Y
authors.initials: Y
authors.lastname: Li
authors.forename: B
authors.initials: B
authors.lastname: Zimmermann
authors.forename: X Y
authors.initials: XY
authors.lastname: Zhong
authors.forename: A K
authors.initials: AK
authors.lastname: Gupta
authors.forename: W
authors.initials: W
authors.lastname: Holzgreve
authors.forename: S
authors.initials: S
authors.lastname: Hahn
mesh_terms: D004247:DNA / Q000097:blood; D005260:Female; D005312:Fetal Blood; D005333:Fetus; D018628:Gene Dosage; D005838:Genotype; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy / Q000097:blood*; D012204:Rh-Hr Blood-Group System / Q000097:blood / Q000235:genetics*; D018029:Rho(D) Immune Globulin / Q000097:blood* / Q000235:genetics
chemical_list: D012204:Rh-Hr Blood-Group System; D018029:Rho(D) Immune Globulin; D004247:DNA