Non-invasive fetal RHD and RHCE genotyping from maternal plasma in alloimmunized pregnancies.
BACKGROUND
In this prospective study, we assessed the feasibility of fetal RH genotyping by analysis of DNA extracted from maternal plasma samples of alloimmunized pregnant women using real-time PCR and primers and probes targeted toward RHD (exon 7 and exon 10) and RHCE (intron 2 and exon 5) genes.


METHODS
We analysed 23 alloimmunized pregnant women (16 anti-D, 5 anti-D + C, 2 anti-E) at risk of haemolytic disease of the newborn (HDN) within 11th and 37th week of pregnancy and correlated the results with serological analysis of cord blood.


CONCLUSIONS
Detection of the presence of the RHD gene, the C and/or E alleles of the RHCE gene in maternal plasma samples is highly accurate and enables implementation in a clinical diagnostic algorithm for following pregnancies at risk for HDN. The absence of RHD gene, the C and/or E alleles of RHCE gene in the current pregnancy excludes the risk of HDN caused by anti-D, anti-C and/or anti-E alloantibodies and the performance of invasive fetal-blood sampling.
Hromadnikova
I
I
Cell Biology Laboratory, Paediatric Clinic, 2nd Medical Faculty, Charles University, University Hospital Motol, Prague, Czech Republic. ilona.hromadnikova@lfmotol.cuni.cz
Vesela
K
K
Benesova
B
B
Nekovarova
K
K
Duskova
D
D
Vlk
R
R
Spalova
I
I
Gerychova
R
R
Hakenova
A
A
Rosenbaumova
Z
Z
Vlasin
P
P
Vlachova
A
A
Palasek
V
V
Roznakova
E
E
Calda
P
P
D004247:DNA / Q000097:blood; D004899:Erythroblastosis, Fetal / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005838:Genotype; D005865:Gestational Age; D006801:Humans; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011446:Prospective Studies; D012203:Rh Isoimmunization / Q000097:blood / Q000175:diagnosis*; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen; D004247:DNA