Prenatal diagnosis of single gene disorders using amniotic fluid as the starting material for PCR

Huang, Huan; Li, Shuo; Lu, Shuolian; Ge, Heng; Sun, Lichao

doi:10.1039/c5an01840d

Cited by 4 publications

(2 citation statements)

References 32 publications

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“…AF examination is a common method for prenatal diagnosis of potential genetic disorders or congenital abnormalities [83,84]. Focusing on NTDs, the existing prenatal diagnostic markers such as acetylcholinesterase and alpha-fetoprotein have limitations in terms of sensitivity, specificity, and technical requirements [23,85].…”

Section: Discussionmentioning

confidence: 99%

Characterizing neuroinflammation and identifying prenatal diagnostic markers for neural tube defects through integrated multi-omics analysis

Wang,

Ji,

Dong

et al. 2024

J Transl Med

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Background Neural Tube Defects (NTDs) are congenital malformations of the central nervous system resulting from the incomplete closure of the neural tube during early embryonic development. Neuroinflammation refers to the inflammatory response in the nervous system, typically resulting from damage to neural tissue. Immune-related processes have been identified in NTDs, however, the detailed relationship and underlying mechanisms between neuroinflammation and NTDs remain largely unclear. In this study, we utilized integrated multi-omics analysis to explore the role of neuroinflammation in NTDs and identify potential prenatal diagnostic markers using a murine model. Methods Nine public datasets from Gene Expression Omnibus (GEO) and ArrayExpress were mined using integrated multi-omics analysis to characterize the molecular landscape associated with neuroinflammation in NTDs. Special attention was given to the involvement of macrophages in neuroinflammation within amniotic fluid, as well as the dynamics of macrophage polarization and their interactions with neural cells at single-cell resolution. We also used qPCR assay to validate the key TFs and candidate prenatal diagnostic genes identified through the integrated analysis in a retinoic acid-induced NTDs mouse model. Results Our analysis indicated that neuroinflammation is a critical pathological feature of NTDs, regulated both transcriptionally and epigenetically within central nervous system tissues. Key alterations in gene expression and pathways highlighted the crucial role of STATs molecules in the JAK-STAT signaling pathway in regulating NTDs-associated neuroinflammation. Furthermore, single-cell resolution analysis revealed significant polarization of macrophages and their interaction with neural cells in amniotic fluid, underscoring their central role in mediating neuroinflammation associated with NTDs. Finally, we identified a set of six potential prenatal diagnostic genes, including FABP7, CRMP1, SCG3, SLC16A10, RNASE6 and RNASE1, which were subsequently validated in a murine NTDs model, indicating their promise as prospective markers for prenatal diagnosis of NTDs. Conclusions Our study emphasizes the pivotal role of neuroinflammation in the progression of NTDs and underlines the potential of specific inflammatory and neural markers as novel prenatal diagnostic tools. These findings provide important clues for further understanding the underlying mechanisms between neuroinflammation and NTDs, and offer valuable insights for the future development of prenatal diagnostics.

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Section: Discussionmentioning

confidence: 99%

Characterizing neuroinflammation and identifying prenatal diagnostic markers for neural tube defects through integrated multi-omics analysis

Wang,

Ji,

Dong

et al. 2024

J Transl Med

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“…In the medical field, it was used to detect and identify pathogenic bacteria [3][4][5][6][7], in diagnostics of genetic or familial diseases [8][9][10], in prenatal diagnosis of fetal genes [11][12][13] and in risk assessment of hypertension [14,15]. In forensic medicine, it was utilized to identify humans [16][17][18][19][20].…”

Section: Introductionmentioning

confidence: 99%

Hot Cell-Direct PCR Aimed at Specific Cell Detection

Kubo¹,

Itoh²,

Furutani³

2016

Polymerase Chain Reaction for Biomedical Applications

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Since the polymerase chain reaction (PCR) was proposed, it has become an essential method in the field of biological gene analysis, providing a method to amplify DNA sequences of interest. To detect and/or analyze genes in cells, the gene or expressed gene must first be extracted before PCR. This procedure takes time and may result in the loss of samples. In order to avoid such drawbacks, two methods, hot cell-direct PCR and reverse transcription-PCR (RT-PCR), were invented, to detect genes in cells. Using hot cell-direct PCR, specific genes in microbial cells such as invA in Salmonella enterica have been easily detected and applied to discriminate Archaea from bacteria. As hot celldirect PCR and RT-PCR are fairly simple processes, they can be applied to detect genes in single cells. We developed an original compact disc (CD)-shaped microfluidic device with microchambers for single-cell isolation and a detection system for expressed genes in isolated single cells in a microchamber on the device. We succeeded in the detection of PCR and RT-PCR products in individual cells and successfully detected S. enterica cells by hot cell-direct PCR. Expressed genes in Jurkat cells-human leukemia T cells-were analyzed by this method.

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Prenatal diagnosis of genetic diseases directly using paper-dried cord blood as the starting material for PCR

et al. 2019

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Prenatal diagnosis of single gene disorders using amniotic fluid as the starting material for PCR

Cited by 4 publications

References 32 publications

Characterizing neuroinflammation and identifying prenatal diagnostic markers for neural tube defects through integrated multi-omics analysis

Characterizing neuroinflammation and identifying prenatal diagnostic markers for neural tube defects through integrated multi-omics analysis

Hot Cell-Direct PCR Aimed at Specific Cell Detection

Prenatal diagnosis of genetic diseases directly using paper-dried cord blood as the starting material for PCR

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