Large-Scale Pre-Diagnosis Study of Fetal RHD Genotyping by PCR on Plasma DNA from RhD-Negative Pregnant Women

Sciellour, C. Rouillac-Le; Puillandre, Philippe; Gillot, Rolande; Baulard, Céline; Métral, Sylvain; Kim, Caroline Le Van; Cartron, Jean‐Pierre; Colin, Yves; Brossard, Y.

doi:10.1007/bf03260044

Cited by 40 publications

(31 citation statements)

References 34 publications

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“…Where possible, RHD genes producing variant D antigens should give a positive result and this can be achieved by including an amplification of exon 7 or 10. Many laboratories prefer to include an amplification of exon 7, which appears to provide a higher affinity reaction than exon 10 (Aubin et al, 1997;Rouillac-Le Sciellour et al, 2004). Those methods that just employ amplification of exon 7 and 10 are not suitable for testing any population containing people of African origin, as they will give false-positive results when the fetus has RHD .…”

Section: Fetal D Testing In Alloimmunized Pregnant Womenmentioning

confidence: 99%

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 D Testing In Alloimmunized Pregnant Womenmentioning

confidence: 99%

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

et al. 2008

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“…Table 2 clearly indicates that a number of researchers concentrated on samples from at risk pregnancies (e.g. Down syndrome), including women who may not resemble the general RhD-negative pregnant population [5,8,9,15,[23][24][25][26]. Since recruitment was carried out selectively, test accuracy reported in such studies might be an overestimate because certain fetal conditions …”

Section: Assessment Against Nipd Proformamentioning

confidence: 99%

“…This is particularly relevant for RHD genotyping because of the genetic variation observed in different ethnic groups. Only four studies specifically identified their study populations as of mixed ethnicity [13,25,31,32].…”

Section: Study Populationmentioning

confidence: 99%

“…Seven studies either did not include replicates or did not report them. Protocols for conversion of replicate outcomes into an overall test result differed significantly across the studies, ranging from a requirement for one or more positive replicate outcome [2,13,28,29,30,[32][33][34] to two or more [6,16,25,35] or all replicates [14,15,31,35,36] to be positive for an overall positive result.…”

Section: Study Conduct and Data Analysismentioning

confidence: 99%

“…A test failure rate, which is derived from the number of excluded samples due to inconclusive results, lack of material or maternal variant genes, was reported in only 12 studies [4][5][6][13][14][15][16]25,[29][30][31]35]. Out of these, only one group of authors considered the failure rate in their analysis of test accuracy [31] and one mentioned the revised overall success rate only in their comments [15].…”

Section: Study Conduct and Data Analysismentioning

confidence: 99%

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Non-invasive fetal RHD genotyping tests: A systematic review of the quality of reporting of diagnostic accuracy in published studies

Freeman

Szczepura

Osipenko

2009

European Journal of Obstetrics & Gynecology and Reproductiv

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Articles reporting the diagnostic accuracy of non-invasive prenatal diagnostic (NIPD) tests for RHD genotyping using fetal material extracted from maternal blood have been published steadily for over a decade. Health care providers in Europe have started to use this technology for management of the small number of sensitised pregnancies (ca. 220-600 per annum in the Netherlands, Germany, France and the UK). Scientists and clinicians are also advocating widespread implementation for the far larger number of non-sensitised RhD-negative pregnancies (ca. 34,000-125,000 per annum in the same countries). Largescale, prospective trials are only now underway. Estimates of the technical performance of these tests are currently based on results from small-scale studies, together with formal meta-analysis. The issue of early assessment of test performance is one faced by many new genetic tests. As part of a wider study we have investigated the quality of reporting of diagnostic accuracy in publications and produced guidelines for future studies.A systematic search of the literature identified 27 papers which met predefined inclusion criteria. All 27 papers were, first, assessed against an international quality (STARD) checklist for reporting of diagnostic accuracy and, second, against our own in-house NIPD proforma to assess the implications of the quality of reporting specifically for the RhD NIPD test. Authors were found to generally present an optimistic view of NIPD, bearing in mind weaknesses identified in reporting and conduct of their studies and the analysis of results, as evidenced by the low STARD scores. The NIPD proforma identified that specific biases were potentially introduced through selective population sampling and/or failure to report the make-up of the population tested, omission of inconclusive results, inconsistencies in the handling of repeat results on a sample, and lack of adequate controls. These factors would inevitably affect the validity of diagnostic accuracy as reported in individual publications, as well as any subsequent meta-analyses. Together, published reports to date may provide a biased picture of the actual potential of NIPD testing for fetal RHD genotyping. Generalisation of the available evidence on diagnostic accuracy, especially to large-scale implementation of NIPD testing of non-sensitised women, will also require that decision makers consider further aspects such as test reliability and cost of routine testing in clinical practice.It is recommended that all studies of diagnostic accuracy of NIPD tests adhere to the STARD quality checklist in order to improve reporting, thereby, minimising bias and increasing the comparability of studies. Researchers should also consider specific shortcomings for NIPD and avoid selective participant sampling; report population characteristics; report handling of replicate sampling as well as their failure rates; and include controls for genotypes tested in the study. Furthermore, meta-analyses should consider the quality, as well as the sample s...

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Investigation of discrepancies obtained during 15 years of non‐invasive fetal RHD genotyping in apparent serologic RhD‐negative pregnant women

et al. 2022

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Objectives In some European countries, non‐invasive fetal RHD genotyping is the first step of anti‐D allo‐immunized pregnant women management but presence of RHD variant alleles may interfere with the results accuracy. We developed an algorithm allowing solving discordant results (due to the presence of RHD variant) in fetal RHD genotyping assay. Method This study gathered the results of fetal RHD genotyping performed between 2006 and 2020 in the Medicine Laboratory of CHR Liège. Exons 4, 5 and 10 of the fetal RHD were profiled in maternal plasma using real time polymerase chain reaction (PCR). When the results were discrepant, maternal RHD variant was further explored by sequence‐specific primer PCR on maternal buffy coat. Results A total of 11,630 pregnant women (mainly of both Caucasian and African origins) were tested during the study period and RHD variant alleles were detected in 247 women. The most frequent variant was RHD*08N.01 found in 66 women mainly of Black African origin. We identified 45 women with weak RHD variant type 1, 2 or 3. Conclusion Women with weak RHD variant type 1, 2 or 3 can safely be considered as RhD positive in terms of RhIg prophylaxis and/or transfusion of blood components. Therefore, identification of RHD allele variants in women with discordant fetal RHD genotyping results contributes to save RhIg prophylaxis and RhD negative blood components.

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Large-Scale Pre-Diagnosis Study of Fetal RHD Genotyping by PCR on Plasma DNA from RhD-Negative Pregnant Women

Cited by 40 publications

References 34 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

Non-invasive fetal RHD genotyping tests: A systematic review of the quality of reporting of diagnostic accuracy in published studies

Investigation of discrepancies obtained during 15 years of non‐invasive fetal RHD genotyping in apparent serologic RhD‐negative pregnant women

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