Fetal genotyping for the K (Kell) and Rh C, c, and E blood groups on cell‐free fetal DNA in maternal plasma

Finning, Kirstin; Martin, Peter; Summers, Joanna; Daniels, Geoff

doi:10.1111/j.1537-2995.2007.01437.x

Cited by 120 publications

(118 citation statements)

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“…Finning et al (2007) were unable to obtain a satisfactory level of specificity by conventional RQPCR methods owing to mispriming of the K (KEL * 1 ) allele-specific primer on the k (KEL * 2 ) allele. This was overcome, with a sacrifice of reduced sensitivity, by employing locked nucleic acids (LNAs) and the introduction of a mismatch into the allele-specific primer.…”

Section: Fetal Genotyping For Other Blood Groupsmentioning

confidence: 99%

“…The k/K polymorphism results from a 698C>T SNP in exon 6 of KEL encoding T193M (Lee et al, 1995). There are only a few published reports of noninvasive fetal genotyping for C, c and E (Legler et al, 2002;Hromadnikova et al, 2005;Finning et al, 2007;Orzińska et al, 2008). All involve RQPCR with allele-specific primers or probes.…”

Section: Fetal Genotyping For Other Blood Groupsmentioning

confidence: 99%

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Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects

et al. 2008

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Fetuses of women with alloantibodies to RhD (D) are at risk from hemolytic disease of the fetus and newborn, but only if the fetal red cells are D-positive. In such pregnancies, it is beneficial to determine fetal D type, as this will affect the management of the pregnancy. It is possible to predict, with a high level of accuracy, fetal blood group phenotypes from genotyping tests on fetal DNA. The best source is the small quantity of fetal DNA in the blood of pregnant women, as this avoids the requirement for invasive procedures of amniocentesis or chorionic villus sampling (CVS). Many laboratories worldwide now provide noninvasive fetal D genotyping as a routine service for alloimmunized women, and some also test for c, E, C and K.In many countries, anti-D immunoglobulin injections are offered to D-negative pregnant women, to reduce the chances of prenatal immunization, even though up to 40% of these women will have a D-negative fetus. High-throughput, noninvasive fetal D genotyping technologies are being developed so that unnecessary treatment of pregnant women can be avoided. Trials suggest that fetal D typing of all D-negative pregnant women is feasible and should become common practice in the near future.

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Section: Fetal Genotyping For Other Blood Groupsmentioning

confidence: 99%

Section: Fetal Genotyping For Other Blood Groupsmentioning

confidence: 99%

Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects

et al. 2008

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“…In previous studies, a good correlation between genotype and phenotype was demonstrated. 12,14 Because delivery occurred in many different hospitals, the determination of the C, c and E phenotype of newborns was not possible in our study population. Therefore, genotyping results for amniotic fluid were used as a reference.…”

Section: Specimens Sample Preparation and Blood Group Serologymentioning

confidence: 99%

“…[8][9][10][11] Whereas numerous studies reporting data for several thousand pregnancies have demonstrated the accuracy of noninvasive prenatal diagnosis of the fetal D type, tests for C, c and E have been investigated in only a few studies with relatively small sample sizes, in which samples were mainly collected later in pregnancy. [12][13][14][15][16] DNA testing earlier in pregnancy has now been established for RhD determination. 17 However, as data are lacking, there is a need to investigate rhesus CcEe (RHCE) alleles in a large study population in early second trimester.…”

Section: Introductionmentioning

confidence: 99%

“…In this study, we combined two published polymerase chain reaction (PCR) protocols 12,14 with a modified automated DNA extraction method for the detection of fetal DNA in maternal blood to determine the fetal Rh blood group status. 17 The aims of the study were to determine the accuracy of fetal C, c and E typing in early pregnancy, and to compare the sensitivities and specificities of the two PCR protocols.…”

Section: Introductionmentioning

confidence: 99%

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Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy

Gutensohn¹,

Müller

Thomann

et al. 2010

BJOG

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Objective The aim of the study was to determine the sensitivity, specificity and accuracy of noninvasive tests for the fetal rhesus CcEc (RHCE) alleles C, c and E in early pregnancy.Design A prospective clinical trial was carried out to evaluate diagnostic accuracy.Setting Women were recruited at four centres specialising in prenatal diagnosis. Peripheral blood and amniotic fluid samples were obtained and sent to a single laboratory for analysis.Sample A total of 233 tests (46 for C, 87 for c and 100 for E) were performed on 181 specimens obtained from pregnant women at weeks 12 to 28 (median week 16) of gestation.Methods Following automated extraction of fetal DNA from maternal plasma, two different real-time polymerase chain reaction (PCR) protocols were used for the detection of the C, c and E alleles of RHCE. The results of the PCR were compared with genotyping results for the amniotic fluid.Main outcome measures Failure rate, sensitivity, specificity and accuracy were the main outcome measures.Results Unequivocal results were obtained for all specimens. With the first PCR protocol, the sensitivity was 100% for C, 38% for c and 59% for E. In contrast, with the second protocol, the sensitivity for C, c and E was 100%. The specificity for all assays was found to be between 99% and 100%.Conclusions A highly accurate protocol has been identified for the detection of fetal RHCE alleles in maternal plasma in early pregnancy. This noninvasive approach can be considered as a useful test in the management of pregnancies with anti-c, anti-E or anti-C alloimmunisation.

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Kell and Kx Blood Group Systems

Daniels

2013

Human Blood Groups

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Kell is a major human blood group system that is highly polymorphic, and at present it is known to express 28 different alloantigens. After the ABO and Rh systems, Kell is the most important blood group system in transfusion medicine, as some of the antigens are potent immunogens and their antibodies can cause severe transfusion reactions in mismatched blood transfusions and fetal anemia in feto-maternal incompatible pregnancies.The Kx blood group system is composed of a single antigen, Kx, which is carried on the XK protein. This system is important clinically because absence of XK protein, found in rare McLeod phenotypes, leads to red blood cell (RBC) acanthocytosis and to late onset abnormalities, usually commencing about midlife, involving the peripheral and central nervous systems, known as the McLeod syndrome.

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Fetal genotyping for the K (Kell) and Rh C, c, and E blood groups on cell‐free fetal DNA in maternal plasma

Abstract: Reliable methods have been developed for predicting fetal K, C, c, and E phenotypes, by testing fetal DNA in the plasma samples of pregnant women whose RBCs lack the corresponding antigens. These methods are now being used routinely in a diagnostic service in the United Kingdom.

Cited by 120 publications

References 37 publications

Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects

Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects

Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy

Kell and Kx Blood Group Systems

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