Molecular determination of RHD zygosity:predicting risk of hemolytic disease of the fetus and newborn related to anti‐D

  title={Molecular determination of RHD zygosity:predicting risk of hemolytic disease of the fetus and newborn related to anti‐D},
  author={Kevin J. Pirelli and Bradley C. Pietz and Susan T. Johnson and Holly L. Pinder and Daniel B. Bellissimo},
  journal={Prenatal Diagnosis},
Development of an accurate molecular method for paternal RHD zygosity to predict risk to a fetus for hemolytic disease of the fetus and newborn (HDFN) related to anti‐D. 

Hemolytic disease of the fetus and newborn in the molecular era.

  • R. Fasano
  • Medicine, Biology
    Seminars in fetal & neonatal medicine
  • 2016

Paternal RHD zygosity determination in Tunisians: evaluation of three molecular tests.

RQ-PCR is the most convenient method for first intention determination of paternal RHD zygosity in Tunisians, however, taking into account positive and negative predictive values, PCR-RFLP could be an alternative despite the heterogeneity of Rhesus boxes and the complexity of RHD.

Acquired RhD mosaicism identifies fibrotic transformation of thrombopoietin receptor‐mutated essential thrombocythemia

Acquired copy‐neutral loss of heterozygosity has been described in myeloid malignant progression with an otherwise normal karyotype.

RHD and RHCE variant and zygosity genotyping via multiplex ligation–dependent probe amplification

A multiplex ligation–dependent probe amplification (MLPA) assay is developed and evaluated to determine clinically relevant RHD and RHCE variant alleles and RHD zygosity.

[Diagnostic utility of RHD-gene detection in maternal plasma in the prophylaxis of feto-maternal Rh-incompatibility].

Effectiveness of the proposed procedure of prenatal noninvasive RHD determination and cffDNA confirmation is high, on condition proper control samples and suitable verifying tests are used.

Transfusion strategy for weak D Type 4.0 based on RHD alleles and RH haplotypes in Tunisia

With more than 460 RHD alleles, this gene is the most complex and polymorphic among all blood group systems and a rationale for the transfusion strategy of weak D Type 4.0 in Tunisia is established.

The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens

The DaU cluster of RHD alleles is characterized by the single‐nucleotide change producing the p.Thr379Met amino acid substitution and has been postulated to be the primordial allele, from which all other alleles of the DAU cluster have eventually evolved.

Rapid RHD Zygosity Determination Using Digital PCR.

Digital PCR provides a highly accurate method to rapidly define blood group zygosity and has clinical application in the analysis of Rh phenotyped or genotyped samples.

Two Reliable Methodical Approaches for Non-Invasive RHD Genotyping of a Fetus from Maternal Plasma

Both real-time PCR and QF PCR were reliable methods for precisely assessing the fetal RHD allele from the plasma of RhD-negative pregnant women.



Quantitation of RHD by real‐time polymerase chain reaction for determination of RHD zygosity and RHD mosaicism/chimerism: an evaluation of four quantitative methods

This work has shown that determination of RHD zygosity of the spouse is crucial in preconception counseling of families with history of hemolytic disease of the fetus and newborn caused by anti‐D.

Novel 3′Rhesus box sequences confound RHD zygosity assignment

Paternal RHD zygosity is required for genetic counseling and management of HDN caused by anti‐D and results in the formation of a hybrid Rhesus box, theoretically through the recombination of 5′ and 3′Rhesus boxes.

Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service

The detection of RHD sequences in maternal plasma has been used to predict fetal D status, based on the assumption that RHD is absent in D– genomes, and this data indicates that this assumption is likely to be correct.

The highly variable RH locus in nonwhite persons hampers RHD zygosity determination but yields more insight into RH‐related evolutionary events

The physical structure of the RH locus and the mechanism causing the deletion of the RHD gene have been explored, enabling RHD zygosity determination in white persons by specific detection of a hybrid Rhesus box characteristic for the R HD– locus.

Determination of RhD zygosity: comparison of a double amplification refractory mutation system approach and a multiplex real-time quantitative PCR approach.

Two new approaches for the molecular determination of RhD zygosity are explored, based on the double Amplification Refractory Mutation System and multiplex real-time quantitative PCR, which accurately distinguished homozygous from heterozygous RhD-positive samples.

The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the Rh D-negative blood group phenotype.

Existing PCR-based methods for predicting D phenotype from DNA are not suitable for testing Africans or any population containing a substantial proportion of people with African ethnicity, so a new test is developed that detects the 37 bp insert in exon 4 of RHDpsi.

RhD genotyping by quantitative fluorescent polymerase chain reaction: a new approach

A new method of RhD/d genotype determination using a quantitative fluorescent PCR (QF‐PCR) assay is developed using a new approach based on the Higgs boson-like structure of the H2O2 gene.

Management of Rhesus Alloimmunization in Pregnancy

  • K. Moise
  • Medicine
    Obstetrics and gynecology
  • 2008
The rarity of rhesus immune globulin in pregnancy warrants consideration of consultation with or referral to a maternal–fetal medicine specialist with experience in the monitoring and treatment of patients with red cell alloimmunization in pregnancy.

Genetic mechanisms of Rhesus box variation

The detection of Aberrant Rhesus boxes can confound this application for RHD zygosity determination and appear to be frequent among African individuals.

The Rh blood group system: a review.

The purpose of this review is to provide an overview of several aspects of the Rh blood group system, including the confusing terminology, progress in molecular understanding, and how this developing knowledge can be used in the clinical setting.