Determination of Fetal RHD Genotype Including the RHD Pseudogene in Maternal Plasma

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dc.contributor Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP ZIZA, Karen Chinoca FMUSP-HC
LIAO, Adolfo Wenjaw FMUSP-HC
FRANCISCO, Rossana Pulcineli Vieira FMUSP-HC
LEVI, Jose Eduardo FMUSP-HC 2017
dc.identifier.citation JOURNAL OF CLINICAL LABORATORY ANALYSIS, v.31, n.3, article ID e22052, 6p, 2017
dc.identifier.issn 0887-8013
dc.description.abstract Objective: To examine the accuracy of fetal RHD genotype and RHD pseudogene determination in a multiethnical population. Methods: Prospective study involving D-negative pregnant women. Cell-free DNA was extracted from 1 ml of maternal plasma by an automated system (MagNA Pure Compact, Roche) and real-time PCR was performed in triplicate targeting the RHD gene exons 5 and 7. Inconclusive samples underwent RHD pseudogene testing by real-time PCR analysis employing novel primers and probe. Results: A positive result was observed in 128/185 (69.2%) samples and negative in 50 (27.0%). Umbilical cord blood phenotype confirmed all cases with a positive or negative PCR result. Seven (3.8%) cases were found inconclusive (exon 7 amplification only) and RHD pseudogene testing with both conventional and real-time PCR demonstrated a positive result in five of them, while two samples were also RHD pseudogene negative. Conclusion: Real-time PCR targeting RHD exons 5 and 7 simultaneously in maternal plasma is an accurate method for the diagnosis of fetal D genotype in our population. The RHD pseudogene real-time PCR assay is feasible and is particularly useful in populations with a high prevalence of this allele. (C) 2016 Wiley Periodicals, Inc.
dc.language.iso eng
dc.publisher WILEY
dc.relation.ispartof Journal of Clinical Laboratory Analysis
dc.rights restrictedAccess
dc.subject DNA; analysis; genotyping techniques; prenatal diagnosis; methods; RhD Blood group system; sensitivity and specificity
dc.subject.other brazilian blood-donors; pregnant-women; dna; population; identification; metaanalysis; prophylaxis; experience; phenotypes; africans
dc.title Determination of Fetal RHD Genotype Including the RHD Pseudogene in Maternal Plasma
dc.type article
dc.rights.holder Copyright WILEY LIM/52 LIM/57 LIM/13
dc.identifier.doi 10.1002/jcla.22052
dc.identifier.pmid 27595845
dc.type.category original article
dc.type.version publishedVersion ZIZA, Karen Chinoca:HC:ICHC LIAO, Adolfo Wenjaw:FM:MOG DEZAN, Marcia:HC:LIM/52 DINARDO, Carla Luana:HC:INCOR JENS, Eduardo:HC:ICHC FRANCISCO, Rossana Pulcineli Vieira:FM:MOG MENDRONE JUNIOR, Alfredo:HC:ICHC ZUGAIB, Marcelo:FM:MOG LEVI, Jose Eduardo:HC:INCOR WOS:000401538800008 2-s2.0-84992612730 HOBOKEN USA
hcfmusp.relation.reference · Amaral DRT, 2011, J CLIN LAB ANAL, V25, P100, DOI 10.1002/jcla.20440
· Avent ND, 2005, TRANSFUSION, V45, P293, DOI 10.1111/j.1537-2995.2005.04470.x
· Baiochi E, 2007, REV ASSOC MED BRAS, V53, P44, DOI 10.1590/S0104-42302007000100018
· Chinen PA, 2010, AM J PERINAT, V27, P759, DOI 10.1055/s-0030-1253560
· Clausen FB, 2012, TRANSFUSION, V52, P752, DOI 10.1111/j.1537-2995.2011.03362.x
· Cruz BR, 2012, TRANSFUSION MED, V22, P84, DOI 10.1111/j.1365-3148.2011.01129.x
· Daniels G, 2010, CLIN LAB MED, V30, P431, DOI 10.1016/j.cll.2010.02.006
· Daniels G, 2009, PRENATAL DIAG, V29, P101, DOI 10.1002/pd.2172
· Daniels GL, 1998, TRANSFUSION, V38, P951, DOI 10.1046/j.1537-2995.1998.381098440860.x
· de Haas M, 2015, VOX SANG, V109, P99, DOI 10.1111/vox.12265
· Devaney SA, 2011, JAMA-J AM MED ASSOC, V306, P627, DOI 10.1001/jama.2011.1114
· ElsMessaoudi S, 2013, CLIN CHIM ACTA, V424, P222
· Finning K, 2008, BRIT MED J, V336, P816, DOI 10.1136/bmj.39518.463206.25
· Finning KM, 2002, TRANSFUSION, V42, P1079, DOI 10.1046/j.1537-2995.2002.00165.x
· Flegel WA, 2011, TRANSFUS APHER SCI, V44, P81, DOI 10.1016/j.transci.2010.12.013
· Geifman-Holtzman O, 2006, AM J OBSTET GYNECOL, V195, P1163, DOI 10.1016/j.ajog.2006.07.033
· Grande M, 2013, PRENATAL DIAG, V33, P173, DOI 10.1002/pd.4035
· Huang DJ, 2005, CLIN CHEM, V51, P2419, DOI 10.1373/clinchem.2005.056010
· Illanes S, 2007, EARLY HUM DEV, V83, P563, DOI 10.1016/j.earthumdev.2006.11.001
· Legler TJ, 2007, PRENATAL DIAG, V27, P824, DOI 10.1002/pd.1783
· Maaskant-van Wijk PA, 1998, TRANSFUSION, V38, P1015, DOI 10.1046/j.1537-2995.1998.38111299056309.x
· Machado Isabela Nelly, 2006, Rev. Assoc. Med. Bras., V52, P232, DOI 10.1590/S0104-42302006000400022
· Minon J-M, 2005, J Gynecol Obstet Biol Reprod (Paris), V34, P448
· Moise KJ, 2008, OBSTET GYNECOL, V112, P164, DOI 10.1097/AOG.0b013e31817d453c
· Mota M, 2012, J CLIN LAB ANAL, V26, P104, DOI 10.1002/jcla.21489
· Muller SP, 2008, TRANSFUSION, V48, P2292, DOI 10.1111/j.1537-2995.2008.01843.x
· Muller SP, 2011, PRENATAL DIAG, V31, P1300, DOI 10.1002/pd.2889
· Pacheco CAMS, 2013, THESIS
· Rijnders RJP, 2003, PRENATAL DIAG, V23, P1042, DOI 10.1002/pd.750
· Scheffer PG, 2011, BJOG-INT J OBSTET GY, V118, P1340, DOI 10.1111/j.1471-0528.2011.03028.x
· Schmidt LC, 2014, GENET MOL RES, V13, P799, DOI 10.4238/2014.February.7.1
· Singleton BK, 2000, BLOOD, V95, P12
· Szulman A, 2012, TRANSFUS APHER SCI, V47, P289, DOI 10.1016/j.transci.2012.07.007
· Teitelbaum L, 2015, ULTRASOUND OBST GYN, V45, P84, DOI 10.1002/uog.14723
· van der Schoot CE, 2003, TRANSFUS MED REV, V17, P31, DOI 10.1053/tmrv.2003.50001
· Wagner F F, 2004, Immunohematology, V20, P23
· Wagner FF, 2000, BLOOD, V95, P3662
dc.description.index MEDLINE
dc.identifier.eissn 1098-2825
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