Prediction of fetal Rh D and Rh CcEe phenotype from maternal plasma with real-time polymerase chain reaction

Legler, Tobias J.; Lynen, R.; Maas, Jens-Holger; Pindur, G.; Kulenkampff, D.; Suren, A.; Osmers, R.; Köhler, Michael

doi:10.1016/s1473-0502(02)00068-x

Cited by 66 publications

(60 citation statements)

References 13 publications

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“…8,9,17 Testing for the prediction of C, c, E and Kell phenotypes has also been performed. [12][13][14][15] As early analysis during pregnancy allows timely and effective clinical treatment, we focused on women in early pregnancy (median 16 weeks of gestation).…”

Section: Discussionmentioning

confidence: 99%

“…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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Section: Discussionmentioning

confidence: 99%

Section: Specimens Sample Preparation and Blood Group Serologymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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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“…These remained to be assessed incorrectly, even after several rounds of re-analysis, indicating that the sample may have been contaminated. As the samples stem from a Caucasian population, a false positive result caused by the inactive allele RHD [10,16] is unlikely, but can only be excluded convincingly by examining for the presence of this allele.…”

Section: Discussionmentioning

confidence: 99%

High throughput non-invasive determination of foetal Rhesus D status using automated extraction of cell-free foetal DNA in maternal plasma and mass spectrometry

Grill

Banzola

et al. 2008

Arch Gynecol Obstet

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Purpose To examine the potential high throughput capability and eYciency of an automated DNA extraction system in combination with mass spectrometry for the noninvasive determination of the foetal Rhesus D status. Methods A total of 178 maternal plasma samples from RHD-negative pregnant women were examined, from which DNA was extracted using the automated Roche MagNA Pure™ system. Presence of the foetal RHD gene was detected by PCR for RHD exon 7 and subsequent analysis using the Sequenom MassArray™ mass spectrometric system. Results We determined that as little as 15 pg of RHD-positive genomic DNA could be detected in a background of 585 pg of RHD-negative genomic DNA. The analysis of the clinical samples yielded a sensitivity and speciWcity of 96.1 and 96.1%, respectively. Conclusion Our study indicated that automated DNA extraction in combination with mass spectrometry permits the determination of foetal Rhesus D genotype with an accuracy comparable to the current approaches using realtime PCR.

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Fetal RHD genotyping by analysis of maternal plasma in a mixed population

Amaral¹,

Credidio²,

Pellegrino³

et al. 2011

Clinical Laboratory Analysis

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Prediction of fetal Rh D and Rh CcEe phenotype from maternal plasma with real-time polymerase chain reaction

Cited by 66 publications

References 13 publications

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

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

High throughput non-invasive determination of foetal Rhesus D status using automated extraction of cell-free foetal DNA in maternal plasma and mass spectrometry

Fetal RHD genotyping by analysis of maternal plasma in a mixed population

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