Non‐invasive foetal <i>RHD</i> genotyping via real‐time PCR of foetal DNA from Chinese RhD‐negative maternal plasma

Wang, X. D.; Wang, B. L.; Ye, S. L.; Liao, Yan-Qiu; Wang, L. F.; He, Zhi Min

doi:10.1111/j.1365-2362.2009.02148.x

Cited by 19 publications

(15 citation statements)

References 44 publications

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“…Fifty studies were located in Europe [3,7,8,20,25-27,29-32,35,37-40,42,46-48,50,52,53,57,59-81,94,98,103], 26 from Asia [4,9,23,24,28,34,36,44,54-56,58,82-86,88,89,91-93,96,100-102], eight from North America [13,21,22,43,51,87,97,99], two from multiple locations [49,90] and a further four from around the rest of the world [33,41,45,95]. Gestational ranges for the pregnant women varied across the studies, as did the amount of blood taken and the volume actually used for extracting DNA (see Additional file 2: Table S1).…”

Section: Resultsmentioning

confidence: 99%

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

et al. 2012

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BackgroundCell-free fetal DNA (cffDNA) can be detected in maternal blood during pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of genetic conditions. Since 1997, many studies have examined the accuracy of prenatal fetal sex determination using cffDNA, particularly for pregnancies at risk of an X-linked condition. Here we report a review and meta-analysis of the published literature to evaluate the use of cffDNA for prenatal determination (diagnosis) of fetal sex. We applied a sensitive search of multiple bibliographic databases including PubMed (MEDLINE), EMBASE, the Cochrane library and Web of Science.ResultsNinety studies, incorporating 9,965 pregnancies and 10,587 fetal sex results met our inclusion criteria. Overall mean sensitivity was 96.6% (95% credible interval 95.2% to 97.7%) and mean specificity was 98.9% (95% CI = 98.1% to 99.4%). These results vary very little with trimester or week of testing, indicating that the performance of the test is reliably high.ConclusionsBased on this review and meta-analysis we conclude that fetal sex can be determined with a high level of accuracy by analyzing cffDNA. Using cffDNA in prenatal diagnosis to replace or complement existing invasive methods can remove or reduce the risk of miscarriage. Future work should concentrate on the economic and ethical considerations of implementing an early non-invasive test for fetal sex.

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Section: Resultsmentioning

confidence: 99%

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

et al. 2012

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“…In order to use other polymorphic DNA markers, the maternal (and ideally paternal) polymorphic status needs to be assessed by genotyping of genomic DNA. Because of their extensive variability short tandem repeat (STR) loci are attractive fetal markers and have been successfully applied in four samples by Wang et al [25]. Also other groups have reported the use of STRs for detection of cell-free fetal DNA, albeit not as a control assay [32,33].…”

Section: Key Pointsmentioning

confidence: 99%

The controversy about controls for fetal blood group genotyping by cell-free fetal DNA in maternal plasma

Scheffer

Haas

Schoot

2011

Current Opinion in Hematology

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“…The reliability of real-time PCR-based prenatal RHD detection has been evaluated with smaller cohort sizes [2,3,5,[7][8][9][10][11]17] and demonstrated with larger cohorts [6,[12][13][14][15] . A reliable prediction of fetal RhD type is influenced by the level of cell-free fetal DNA found in the maternal plasma and by the design of the detection assay.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Two Real-Time Multiplex PCR Screening Assays Detecting Fetal <i>RHD</i> in Plasma from RhD Negative Women to Ascertain the Requirement for Antenatal RhD Prophylaxis

et al. 2010

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Objective: To evaluate two different multiplex real-time PCR assays detecting fetal RHD for screening of RhD negative women in relation to antenatal RhD prophylaxis. Methods: We designed a duplex assay for the detection of RHD exon 7 and 10 and a triplex assay for the detection of RHD exon 7, 10 and 5. We used the same fluorescent dye for the exon 7 and 10 probes to increase sensitivity; exon 5 was VIC labeled. We evaluated possible inhibition of DNA amplification with dilution experiments. We then tested the two multiplex assays with DNA extracted from 97 plasma samples from 38 RhD negative women in gestational weeks 6–37. Results: Dilution experiments revealed no inhibition of amplification in the multiplex assays. For plasma samples, the duplex assay was significantly more sensitive than the triplex assay (p < 0.0001). For the duplex assay (exon 7/10), accuracy was 99.0%. For the triplex assay (exon 7/10), accuracy was 94.2%. Detection of exon 5 was less reliable. Conclusion: The duplex assay using exon 7/10 was the most reliable for prenatal prediction of fetal RhD type as a candidate assay for screening of RhD negative women in relation to antenatal RhD prophylaxis. The triplex assay needs further optimization.

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Non‐invasive foetal RHD genotyping via real‐time PCR of foetal DNA from Chinese RhD‐negative maternal plasma

Abstract: The correct foetal RhD phenotype may be accurately predicted from RhD-negative maternal plasma in Chinese subjects. The RHD1227A allele proved to be an important genetic marker in the RhDel Chinese population.

Cited by 19 publications

References 44 publications

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

The controversy about controls for fetal blood group genotyping by cell-free fetal DNA in maternal plasma

Evaluation of Two Real-Time Multiplex PCR Screening Assays Detecting Fetal <i>RHD</i> in Plasma from RhD Negative Women to Ascertain the Requirement for Antenatal RhD Prophylaxis

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