Detection of SNPs in the Plasma of Pregnant Women and in the Urine of Kidney Transplant Recipients by Mass Spectrometry

Liu, Ying; Hahn, Deirdré; Wenzel, Friedel; Holzgreve, Wolfgang; Hahn, Sinuhe

doi:10.1196/annals.1368.019

Cited by 12 publications

(10 citation statements)

References 9 publications

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“…One such example is the detection of paternally inherited SNPs located in the β-globin locus for NIPD of β-thalassemia [57,58]. Furthermore, the application of PCR technology in combination with mass spectrometry (MS) has allowed the detection of fetal monogenic mutations present in the maternal circulation [57-63]. One such application was the use of the MassARRAY system, a matrix-assisted laser desorption ionization time-of-flight MS system designed for the detection of primer-extended PCR products [62,64].…”

Section: Developments In Aneuploidy Detectionmentioning

confidence: 99%

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

Papageorgiou

Patsalis

2012

Genome Medicine

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Non-invasive prenatal diagnosis (NIPD) has substantial medical importance as it targets the development of safer and more effective methods to avoid the risk of fetal loss associated with currently used invasive methods. Several approaches have been demonstrated as being proof-of concept for NIPD of chromosomal aneuploidies. These approaches include cell-based and cell-free detection methods, involving the investigation of fetal cells in the maternal circulation, formaldehyde treatment of maternal plasma, DNA methylation studies using sodium bisulfite or restriction enzymes, protein-based studies, identification of fetal-specific mRNAs and digital polymerase chain reaction (PCR) approaches, and recently next-generation sequencing and methylated DNA immunoprecipitation real-time quantitative PCR-based approaches. Although all these NIPD methods have both advantages and limitations, some are moving closer to clinical implementation. Biotechnology companies dedicated to the development of NIPD tests such as the sequencing- or methylation-based approaches are finalizing large clinical trials. It is expected that these new technologies will facilitate safer, more sensitive and accurate prenatal diagnostic tests in the near future. In this review, we highlight the most recent advances in methods for NIPD of aneuploidies, and we discuss their future implications in clinical practice.

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Section: Developments In Aneuploidy Detectionmentioning

confidence: 99%

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

Papageorgiou

Patsalis

2012

Genome Medicine

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“…The concentration of fetal DNA in maternal circulation is considerably low, comprising 3.7% of total DNA as quantified by realtime quantitative analysis (17). A previous study from our laboratory also showed that donor-derived genetic materials could be sensitively detected in the urine of kidney transplant recipients using MALDI-TOF MS (13).…”

Section: Discussionmentioning

confidence: 98%

“…It could permit the reliable detection of SNPs (11) from a very rare target, including fetal point mutations from cell-free fetal DNA in maternal plasma and donor derived cell-free DNA in organ transplant recipients urine, which cannot be reliably detected by more conventional PCRbased approaches (12,13).…”

Section: Introductionmentioning

confidence: 99%

A rapid and accurate approach to identify single nucleotide polymorphisms of mitochondrial DNA using MALDI-TOF mass spectrometry

Fan

Garritsen²,

Tarhouny³

et al. 2008

Clinical Chemical Laboratory Medicine

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Background: Single nucleotide polymorphisms (SNPs) of mitochondrial DNA (mtDNA) are involved in physiological and pathological conditions. We developed a rapid, accurate, highly sensitive and high-throughput approach with low cost to identify mtDNA SNPs. Methods: Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) was used to detect 18 SNPs of mtDNA by uniplex and multiplex assays. The sensitivity and specificity of the MALDI-TOF MS were evaluated. The accuracy of the approach was validated by the comparison of using the robust sequencing analysis. Results: The detection limit achieved with the assays corresponded to the identification of five-genome equivalence of mtDNA per reaction after first round PCR amplification. The testing system enabled the discrimination of as little as 5% of mtDNA polymorphism in the predominating background of mtDNA not containing the SNP. No false positive and false negative results were obtained using the uniplex and multiplex MALDI-TOF MS assays for the analysis of the 18 SNPs compared with those obtained by sequencing analysis. Conclusions: Possible fields which could benefit from this powerful and sensitive tool include forensic medicine, tracing of matrilineage, transplantation immu-

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“…Previous studies have reported the non-invasive detection of SNPs [26][27][28] and fetal CF mutations [7,[29][30] in maternal plasma. However, the techniques used in those publications require complicated handling to be applied in clinical practice or are not valid to study any mutation.…”

Section: Discussionmentioning

confidence: 99%

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma

Bustamante-Aragonés

Gallego-Merlo

Trujillo-Tiebas

et al. 2008

Journal of Cystic Fibrosis

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The knowledge about the inheritance of the paternal mutation in a fetus may avoid the conventional prenatal diagnosis in some cases. The SNaPshot technique has been shown to be a sensitive and accurate method for the detection of fetal mutations in maternal plasma. Its ease handling, rapid and low cost makes it appropriate for a future routine clinical use in non-invasive prenatal diagnosis of cystic fibrosis.

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Detection of SNPs in the Plasma of Pregnant Women and in the Urine of Kidney Transplant Recipients by Mass Spectrometry

Cited by 12 publications

References 9 publications

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

A rapid and accurate approach to identify single nucleotide polymorphisms of mitochondrial DNA using MALDI-TOF mass spectrometry

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma

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