Noninvasive fetal RhD genotyping.

作者: Frederik Banch Clausen , Merete Berthu Damkjær , Morten Hanefeld Dziegiel

DOI: 10.1016/J.TRANSCI.2014.02.008

关键词: Gestational ageDiseaseGenotyping TechniquesGenotypingObstetricsPrenatal diagnosisFetusPregnancyMedicineImmunization

摘要: Immunization against RhD is the major cause of hemolytic disease fetus and newborn (HDFN), which causes fetal or neonatal death. The introduction postnatal immune prophylaxis in 1960s drastically reduced immunization incidents pregnant, D-negative women. In several countries, antenatal combined with to further minimize risk. Due lack knowledge type, given all European population, approximately 40% pregnant women carry a are thus at no risk immunization. Noninvasive genotyping enables be targeted only those carrying D-positive avoid unnecessary treatment. Based on an analysis cell-free DNA from plasma women, this approach has recently undergone technical improvements rapid clinical implementation. As screening assay, sensitivity >99.3% gestational age 10-11 weeks. addition, widely used assess HDFN anti-D immunized

参考文章(116)
Willy A. Flegel, Franz F. Wagner, Review: the molecular basis of the Rh blood group phenotypes. Immunohematology / American Red Cross. ,vol. 20, pp. 23- 36 ,(2020) , 10.21307/IMMUNOHEMATOLOGY-2019-419
Andrea Doescher, Eduard K. Petershofen, Franz F. Wagner, Markus Schunter, Thomas H. Müller, Evaluation of single‐nucleotide polymorphisms as internal controls in prenatal diagnosis of fetal blood groups Transfusion. ,vol. 53, pp. 353- 362 ,(2013) , 10.1111/J.1537-2995.2012.03738.X
C. Ellen van der Schoot, Florentine F. Thurik, Barbera Veldhuisen, Masja de Haas, Noninvasive prenatal blood group and HPA-1a genotyping: the current European experience. Transfusion. ,vol. 53, pp. 2834- 2836 ,(2013) , 10.1111/TRF.12411
P. Metcalfe, P. Rigsby, E. Tait, S. Urbaniak, An international reference reagent for the detection of RHD and SRY DNA in plasma. Vox Sanguinis. ,vol. 102, pp. 243- 249 ,(2012) , 10.1111/J.1423-0410.2011.01543.X
Klaus Rieneck, Mads Bak, Lars Jønson, Frederik Banch Clausen, Grethe Risum Krog, Niels Tommerup, Leif Kofoed Nielsen, Morten Hedegaard, Morten Hanefeld Dziegiel, Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma Transfusion. ,vol. 53, pp. 2892- 2898 ,(2013) , 10.1111/TRF.12172
Belinda K. Singleton, Carole A. Green, Neil D. Avent, Peter G. Martin, Elizabeth Smart, Abigail Daka, Edwin G. Narter-Olaga, Linda M. Hawthorne, Geoff Daniels, 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 Blood. ,vol. 95, pp. 12- 18 ,(2000) , 10.1182/BLOOD.V95.1.12
B. Chown, J. M. Bowman, J. M. Pollock, M. Lewis, Rh isoimmunization during pregnancy: antenatal prophylaxis Canadian Medical Association Journal. ,vol. 118, pp. 623- 627 ,(1978)
Franz F. Wagner, Christoph Gassner, Thomas H. Müller, Diether Schönitzer, Friedrich Schunter, Willy A. Flegel, Molecular Basis of Weak D Phenotypes Blood. ,vol. 93, pp. 385- 393 ,(1999) , 10.1182/BLOOD.V93.1.385.401K19_385_393
K. J. Moise, N. H. Boring, R. O'Shaughnessy, L. L. Simpson, H. M. Wolfe, J. K. Baxter, W. Polzin, K. A. Eddleman, S. S. Hassan, D. Skupski, G. McLennan, T. Paladino, P. Oeth, A. Bombard, Circulating cell‐free fetal DNA for the detection of RHD status and sex using reflex fetal identifiers Prenatal Diagnosis. ,vol. 33, pp. 95- 101 ,(2013) , 10.1002/PD.4018
Sina P. Müller, Iris Bartels, Werner Stein, Günter Emons, Kai Gutensohn, Tobias J. Legler, Cell-free fetal DNA in specimen from pregnant women is stable up to 5 days. Prenatal Diagnosis. ,vol. 31, pp. 1300- 1304 ,(2011) , 10.1002/PD.2889