Prenatal genotyping of <i>RHD</i> and <i>SRY</i> using maternal blood

Randen, Ingrid; Hauge, Reidun; Kjeldsen‐Kragh, Jens; Fagerhol, Magne K.

doi:10.1111/j.0042-9007.2003.00371.x

Cited by 40 publications

(40 citation statements)

References 30 publications

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“…Similarly, a lack of consistency in the handling and reporting of replicates will limit the generalisability of study findings. Randen et al [34] reported a decrease in the number of false results and an increase in accuracy when only one positive result, rather than all replicate outcomes, were considered. Reported test performance is, therefore, laboratory specific and might not be replicated in routine clinical practice.…”

Section: Discussionmentioning

confidence: 99%

“…There was no consistency in the type of control used. Y-linked markers were used in two studies but these are unable to provide a positive control for female fetuses [9,34]. Insertion deletion polymorphisms (IDPs) were used in four studies; these are sex independent and appear reasonably robust [14,16,31,36].…”

Section: Methodsmentioning

confidence: 99%

“…Twenty studies reported the number of replicates used, which ranged from two to seven for fetal DNA samples and up to 11 when using fetal cells. Out of these, five studies used a different number of replicates for different samples [9,14,30,33,34] and four studies presented no, or insufficient, information on how replicates were handled. Seven studies either did not include replicates or did not report them.…”

Section: Study Conduct and Data Analysismentioning

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%

See 3 more Smart Citations

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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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Study Conduct and Data Analysismentioning

confidence: 99%

Section: Study Conduct and Data Analysismentioning

confidence: 99%

See 2 more Smart Citations

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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“…amniocentesis or collection of fetal blood, provided that the validity of the non-invasive diagnosis is proven. The reliability of non-invasive RHD typing with real-time PCR was investigated in large studies during the past decade [2,3,4,5,6,7,8,9,10,11,12,13]. The majority of the studies focused on screening of RHD -negative pregnant women to assess the need for anti-D-prophylaxis during pregnancy and collected samples after the 20th week of gestation [14,15,16,17,18,19,20].…”

Section: Introductionmentioning

confidence: 99%

The Glass Slide Extraction System Snap Card Improves Non-Invasive Prenatal Genotyping in Pregnancies with Antibodies

Adamczyk

Doescher

Haydock

et al. 2015

Transfus Med Hemother

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Background: Determination of fetal blood groups in maternal plasma samples critically depends on adequate pre-analytical steps for optimal amplification of fetal DNA. We compared the extraction of cell-free DNA by binding on a glass surface (BCSI SNAP™ Card) with an automated system based on bead technology (MagnaPure compact™). Methods: Maternal blood samples from 281 pregnancies (7th-39th week of gestation) with known antibodies were evaluated in this study. Both the SNAP card and the MagnaPure method were applied to isolate DNA in order to directly compare the amplification in a single base extension assay and/or real-time PCR. Results: The mean concentration of total DNA obtained by the SNAP card (33.8 ng/µl) exceeded more than twofold that of MagnaPure extraction (15.7 ng/µl). SNAP card-extracted samples allowed to detect 3.7 single nucleotide polymorphisms (SNPs) versus 2.5 SNPs in MagnaPure extracts to control for traces of fetal DNA. This difference is highest for samples from 7th-13th week of gestation. Conclusion: The SNAP card system improves DNA extraction efficacy for prenatal diagnosis in maternal blood samples and provides an at least eightfold higher total amount of DNA for the ensuing analysis. Its advantage is most evident for samples from early stages of pregnancy and thus especially valuable for pregnancies with antibodies.

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Reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women

et al. 2005

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Prenatal genotyping of RHD and SRY using maternal blood

Abstract: This method is not suitable for routine analysis because of the lack of a positive control for RHD-negative female fetuses and a decrease in PCR sensitivity when performing duplex PCR. Fetal DNA in maternal plasma is better preserved when the blood sample is kept cool.

Cited by 40 publications

References 30 publications

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

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

The Glass Slide Extraction System Snap Card Improves Non-Invasive Prenatal Genotyping in Pregnancies with Antibodies

Reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women

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