Molecular and Cellular Probes最新文献

{"title":"Clonal diversity in KRAS mutant colorectal adenocarcinoma under treatment: Monitoring of cfDNA using reverse hybridization and DNA sequencing platforms","authors":"Emese Sarolta Bádon ,&nbsp;Attila Mokánszki ,&nbsp;Anikó Mónus ,&nbsp;Csilla András ,&nbsp;Gábor Méhes","doi":"10.1016/j.mcp.2022.101891","DOIUrl":"10.1016/j.mcp.2022.101891","url":null,"abstract":"<div><p>Biological heterogeneity is a key feature of malignancies that significantly contributes to disease progression and therapy resistance. Residual/relapsed tumor foci may represent genetically divergent subclones, which remain uncovered as repeated and multiple tumor sampling is usually limited. The analysis of circulating free DNA (cfDNA) from the peripheral blood plasma (also called a liquid biopsy, LB) is a new achievement that provides an effective tool for follow-up monitoring of cancer-related genetic status. The present study highlights the phenomenon of mutational variability observed in patients with metastatic <em>KRAS</em> mutant colorectal cancer (mCRC) during treatment with bevacizumab in combination in a longitudinal fashion.</p><p>The prospective study included 490 mCRC patients evaluated between 2020 and 2022 in our institution. Out of the 211 <em>KRAS</em> mutant cases (43.06%) 12 tumors were identified with multiple <em>KRAS</em> gene variants (5.68%). Detailed follow-up investigations were possible in 3 of these patients including the genotyping of the primary and available metastatic tumors, and the peripheral blood cfDNA. cfDNA was collected from three different time points before and between cycles of combined treatment with bevacizumab chemotherapy. <em>KRAS</em> gene variants were identified using reverse-hybridization strips, and next-generation sequencing (NGS), and confirmed by conventional Sanger sequencing.</p><p>Interestingly, surgery and multiple treatment cycles reorganized the mutational profiles in the selected cases. The effect of the treatments resulted either in the overrepresentation of one of the pre-existing gene variants or in the appearance of new <em>KRAS</em> variants absent in the primary sample, according to the plasma cfDNA findings. Besides the <em>KRAS</em> variants demonstrated by targeted analysis, NGS mutational profiling identified some additional pathogenic variants from the cfDNA samples (including <em>NRAS</em> and <em>MET</em> alterations).</p><p>In conclusion, plasma cfDNA sampling enables the monitoring of mutational heterogeneity and subclonal dynamics of the actual metastatic tumor mass in mCRC. The pattern of molecular profile potentially reflects a differential drug response determining further progression.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9498419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Circular RNA ITCH increases sorafenib-sensitivity in hepatocellular carcinoma via sequestering miR-20b-5p and modulating the downstream PTEN-PI3K/Akt pathway","authors":"Xiaodong Li ,&nbsp;Xuedong Yin ,&nbsp;Heyi Bao ,&nbsp;Chang Liu","doi":"10.1016/j.mcp.2022.101877","DOIUrl":"10.1016/j.mcp.2022.101877","url":null,"abstract":"<div><h3>Backgrounds</h3><p>Sorafenib-resistance leads to poor prognosis and high mortality in advanced hepatocellular carcinoma (HCC), and this study aims to investigate the functional role of a circular RNA ITCH (circITCH) in regulating the sorafenib-resistance of HCC and its underlying mechanisms.</p></div><div><h3>Methods</h3><p>The expression of circITCH in HCC tissues and cell lines were detected by performing quantitative real-time polymerase chain reaction. Sorafenib-resistant HCC cells were transfected with PLCDH-circITCH to upregulate circITCH and intervened with sorafenib, and MTT assay, flow cytometry and transwell assay were used to test the cell viability, apoptosis and migration ability, respectively. The downstream target of circITCH were explored by using bioinformatic analysis, dual luciferase reporter system and Western blot.</p></div><div><h3>Results</h3><p>CircITCH was significantly down-regulated in HCC tissues and cell lines, compared with their normal counterparts. Especially, in contrast with the sorafenib-sensitive HCC cells, continuous sorafenib treatment decreased the expression levels of circITCH in the sorafenib-resistant HCC cells. Overexpression of circITCH increased sorafenib-sensitivity, promoted cell apoptosis and reduced cell migration abilities in the sorafenib-resistant HCC cells. Mechanically, circITCH elevated PTEN expression to inactivate the PI3K/Akt signals through negatively regulating miR-20b-5p in HCC, and upregulating miR-20b-5p or inhibiting PTEN abolished the enhancing effect of circITCH overexpression on sorafenib-induced cytotoxicity in sorafenib-resistant HCC cells.</p></div><div><h3>Conclusion</h3><p>Taken together, this study proves that circITCH enhances sorafenib-sensitivity in sorafenib-resistant HCC cells via regulating the miR-20b-5p/PTEN/PI3K/Akt signaling cascade, which highlights the potential value of circITCH as a target for enhancing the sorafenib-sensitivity in HCC.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9129285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elevated PGT promotes proliferation and inhibits cell apoptosis in preeclampsia by Erk signaling pathway","authors":"Huiyuan Pang ,&nbsp;Di Lei ,&nbsp;Jinfa Huang ,&nbsp;Yuping Guo ,&nbsp;Cuifang Fan","doi":"10.1016/j.mcp.2023.101896","DOIUrl":"10.1016/j.mcp.2023.101896","url":null,"abstract":"<div><p>Prostaglandins participate in maternal recognition of pregnancy, implantation and maintenance of gestation. Prostaglandin transporter (PGT), as a candidate molecule of prostaglandin carriers, might be involved in the pathogenesis of preeclampsia. In preeclampsia (PE) patients’ placental tissue, we identified PGT by RNA sequencing, measured its expression pattern by quantitative real-time PCR and Western blot. PGT was found to be upregulated in preeclamptic placental tissue. The expression pattern of PGT in PE was double confirmed by eight Gene Expression Omnibus (GEO) databases. In abortion tissues at 6–8 weeks, we then observed the cellular location of PGT by Immunofluorescence technique (IF) and found PGT located in trophoblast cell of the placenta of early pregnancy. In vitro studies revealed that forced expression of PGT in HTR8/Sveno cell inhibited its apoptosis, but promoted its proliferation by activating Erk signaling. In vivo study, we used reduced uterine perfusion pressure (RUPP) rat model and L-NAME-induced preeclampsia-like rats to study the possible role of PGT in preeclampsia. And PGT was found to be upregulated in both preeclampsia rat models by Immunohistochemical (IHC) staining. Newly identified PGT plays an important role in trophoblast proliferation via Erk signaling, providing new insights for understanding the pathogenesis of PE.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10034271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Triiodothyronine enhances cardiac contractility in septic rats and probably through Akt-Caspase9 pathway to reduce septic-induced cardiomyocyte apoptosis","authors":"Fuquan Tu ,&nbsp;Guangwei Yu ,&nbsp;Wenwei Wu,&nbsp;Jingnan Xiang,&nbsp;Zengyu Wei,&nbsp;Qin Liu,&nbsp;Xiaohong Lin","doi":"10.1016/j.mcp.2022.101852","DOIUrl":"10.1016/j.mcp.2022.101852","url":null,"abstract":"","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0890850822000639/pdfft?md5=2b333efee02a39cacf9ab0b9e6173afa&pid=1-s2.0-S0890850822000639-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10445781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular sensitization patterns of common food-and respiratory allergens in the Hungarian population","authors":"Erzsébet Pintér ,&nbsp;Mária Kun ,&nbsp;Judit Konderák ,&nbsp;Gabriella Páll ,&nbsp;Lajos A. Réthy","doi":"10.1016/j.mcp.2022.101872","DOIUrl":"10.1016/j.mcp.2022.101872","url":null,"abstract":"<div><h3>Background</h3><p>Recently developed Immunoglobulin-E (IgE) based molecular allergy diagnostics provide the ability of identifying allergenic components or ingredients at the molecular level (component-resolved-diagnosis, CRD). Compared to the classical IgE-based allergy diagnostics, molecular technology is providing more sensitive and specific IgE-sensitization patterns. Certain sensitization patterns are characteristic of large geographic regions. There are only few data available on the molecular IgE sensitization patterns in East-Central Europe. This study aims to present further data from this region.</p></div><div><h3>Methods</h3><p>Data of 3993 stored, anonymized molecular ImmunoCap IgE measurements (CRD), performed in Hungary between January-December 2019 from sera of 1288 subjects (mean age: 27 years ±18 years, male/female ratio 0.56) were analyzed retrospectively, in order to get a local distributional pattern of the sensitizing (IgE &gt;0.35 KU/l) molecular allergens.</p></div><div><h3>Results</h3><p><span>The proportion of CRD positive cases was 24.3%. Amongst them, the most prevalent inhalative allergens were Amb a 1 (18%) Art v 1 (8%) in adults and Der p 2 (3%) and Der p 1 (3%) and Amb a 1 (4%) in subjects below 18 years of age. The same for food allergens were </span>Gal d 2 (21%), Bos d 4 (17%), Bos d 5 (11%) in adults and Gal d 2 (38%), Gal d 1 (28%), Bos d 4 (21%), Bos d 5 (13%) and Bos d 8 (7%) in children. The ratio of mono-sensitivities among CRD-positive cases was 37.5%.</p></div><div><h3>Conclusion</h3><p>Our results provide region-specific patterns of sensitization and molecular allergen spreading for Hungary. The relatively higher abundance of polysensitization's among allergic cases underlines the need for early diagnostic -and preventive measures in the future.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10446830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aptamer-based biosensors for Pseudomonas aeruginosa detection","authors":"Seyyed Hossein Khatami ,&nbsp;Sajedeh Karami ,&nbsp;Hamid Reza Siahkouhi ,&nbsp;Mortaza Taheri-Anganeh ,&nbsp;Javad Fathi ,&nbsp;Mir Behrad Aghazadeh Ghadim ,&nbsp;Sina Taghvimi ,&nbsp;Zahra Shabaninejad ,&nbsp;Gholamhossein Tondro ,&nbsp;Neda Karami ,&nbsp;Leila Dolatshah ,&nbsp;Elahe Soltani Fard ,&nbsp;Ahmad Movahedpour ,&nbsp;Mohammad Hasan Darvishi","doi":"10.1016/j.mcp.2022.101865","DOIUrl":"10.1016/j.mcp.2022.101865","url":null,"abstract":"<div><p><span><em>Pseudomonas aeruginosa</em></span><span> possesses innate antibiotic resistance mechanisms, and carbapenem-resistant </span><em>Pseudomonas aeruginosa</em> has been considered the number one priority in the 2017 WHO list of antimicrobial-resistant crucial hazards. Early detection of <em>Pseudomonas aeruginosa</em><span> can circumvent treatment challenges. Various techniques have been developed for the detection of </span><em>P. aeruginosa</em><span><span> detection. Biosensors have recently attracted unprecedented attention in the field of point-of-care diagnostics due to their easy operation, rapid, low cost, high sensitivity, and selectivity. Biosensors can convert the specific interaction between bioreceptors (antibodies, aptamers) and pathogens<span> into optical, electrical, and other signal outputs. Aptamers are novel and promising alternatives to antibodies as biorecognition elements mainly synthesized by systematic evolution of ligands by exponential enrichment and have predictable </span></span>secondary structures. They have comparable affinity and specificity for binding to their target to antibody recognition. Since 2015, there have been about 2000 journal articles published in the field of aptamer biosensors, of which 30 articles were on the detection of </span><em>P. aeruginosa</em>. Here, we have focused on outlining the recent progress in the field of aptamer-based biosensors for <em>P. aeruginosa</em><span> detection based on optical, electrochemical, and piezoelectric signal transduction methods.</span></p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10447508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relation of CRP gene variants to altered risk of Helicobacter pylori - associated chronic gastritis: A case-control study in Tunisia","authors":"Mouna Stayoussef ,&nbsp;Sabrina Zidi ,&nbsp;Perizat Kanabekova ,&nbsp;Leila Mouellhi ,&nbsp;Wassim Y. Almawi ,&nbsp;Besma Yaacoubi-Loueslati","doi":"10.1016/j.mcp.2022.101864","DOIUrl":"10.1016/j.mcp.2022.101864","url":null,"abstract":"<div><h3>Background</h3><p>We investigated the association between <span><em>CRP</em></span><span> variants and chronic gastritis in </span><span><em>H. </em><em>pylori</em></span>-infected patients at the allele, genotype, and haplotype levels. This was also assessed according to serum hs-CRP levels.</p></div><div><h3>Methods</h3><p>Study subjects consisted of 77 <em>H. pylori</em>-infected patients and 96 <em>H. pylori</em>-negative controls. Genotyping of the <em>CRP</em> rs1572970, rs876537, rs2794520, rs2808630, rs1130864, rs1417938, rs7553007, and rs4285692 variants were analyzed by real-time PCR.</p></div><div><h3>Results</h3><p><span>Significantly higher MAF and increased risk of chronic gastritis were associated with rs1130864, rs1417938, and rs7553007, which persisted after controlling for key covariates. Significant differences in the genotype distribution of rs1130864, rs1417938, and rs7553007 were also seen between </span><em>H</em>. <em>pylori</em>-infected patients and healthy controls. Increased risk of <em>H. pylori</em>-associated chronic gastritis was associated with carriage of rs1130864 C/T, and more with T/T genotype carriers, as well as with rs1417938 T/A and A/A genotype carriers. Functionally, the distribution of rs1130864 and rs1417938 genotypes were significantly different between <em>H</em>. pylori-infected patients and controls in the low hs-CRP (&lt;6 mg/L) group. CRP haplotype analysis identified Block 1 (rs1572970, rs876537, rs2794520), and Block 2 (rs2808630, rs1130864, rs1417938) associated with <em>H. pylori</em> infection. Haplotypes ACC (Block 1) and TTA and TTT (Block 2) were positively associated with <em>H. pylori</em>-associated chronic gastritis with low hs-CRP levels.</p></div><div><h3>Conclusion</h3><p><span>Altered serum levels of hs-CRP, stemming in part from the presence of specific genetic variants in </span><em>CRP</em> gene, modulate the risk of <em>H. pylori</em> infection.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10504410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"miR-203 suppresses pancreatic cancer cell proliferation and migration by modulating DUSP5 expression","authors":"Zekiye Altan,&nbsp;Yunus Sahin","doi":"10.1016/j.mcp.2022.101866","DOIUrl":"10.1016/j.mcp.2022.101866","url":null,"abstract":"<div><h3>Background</h3><p>Pancreatic cancer<span> (PC) is an insidious cancer that is commonly diagnosed in advanced stages. Therefore, it is necessary to understand PC-related mechanisms in order to discover new and reliable diagnostic biomarkers. It is known that miRNAs<span> play a crucial role in carcinogenesis by targeting mRNAs. In this study we aimed to explore interaction between downregulated miR-203 and its upregulated target DUSP5 in PC.</span></span></p></div><div><h3>Methods</h3><p>Using bioinformatics approaches we identified the DUSP5 as a direct target gene of miR-203 and detected potential binding sites between miR-203 and DUSP5. Additionally, we evaluated subcellular location, expression level and prognostic value of DUSP5 in PC through using various bioinformatics tools. To investigate the relationship between miR-203 and DUSP5, we increased the expression levels of miR-203 by transfecting miR-203 mimics into the pancreatic cancer cell line, PANC-1. Finally, MTT, wound healing, and colony formation assays were performed to determine effect of overexpressed miR-203 on proliferation and migration of PANC-1 cells.</p></div><div><h3>Results</h3><p>We found that expression level of DUSP5 in pancreas tissue<span> was one of the lowest tissue expression among all normal human tissue types. In addition, DUSP5 expression was upregulated both PC tissues and cell line and associated with poor overall survival in PC. Overexpression of miR-203 significantly downregulated expression level of DUSP5 and remarkably suppressed proliferation, migration and colony formation ability of PANC-1 cells.</span></p></div><div><h3>Conclusions</h3><p>These findings suggest that miR-203 restrains proliferation and migration of PC cells by regulating oncogenic activity of DUSP5 in PC, thereby could be novel candidate biomarkers for PC diagnosis and treatment.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10437374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The expression of long non-coding RNA LINC01389, LINC00365, RP11-138J23.1, and RP11-354K4.2 in gastric cancer and their impacts on EMT","authors":"Negin Taghehchian ,&nbsp;Moein Farshchian ,&nbsp;Reihaneh Alsadat Mahmoudian ,&nbsp;Ahmad Asoodeh ,&nbsp;Mohammad Reza Abbaszadegan","doi":"10.1016/j.mcp.2022.101869","DOIUrl":"10.1016/j.mcp.2022.101869","url":null,"abstract":"<div><h3>Background</h3><p>Epithelial cancers acquire the epithelial to mesenchymal transition<span> (EMT), which leads tumor cells to invade and metastasize to adjacent and distant tissues. The mechanisms involved in EMT phenotype are controlled by numerous markers as well as signalling pathways. Recently, long non-coding RNAs (lncRNAs) were introduced that play the regulatory role in EMT via crosstalk with EMT-related transcription factors and signalling pathways. The present study aimed to investigate the expression of four lncRNAs in human GC and elucidate their probable role in EMT procedure and the pathogenesis of gastric cancer (GC).</span></p></div><div><h3>Methods</h3><p>The expression profile of lncRNAs (<em>LINC01389, LINC00365, RP11-138J23.1</em>, and <em>RP11-354K4.2</em>) and mRNAs (<em>TWIST1</em>, <span><em>MMP13</em></span>, <em>MAML1</em>, <em>CD44s</em>, and <span><em>SALL4</em></span>) between eighty-three GC and adjacent non-cancerous tissues were assessed by quantitative real-time PCR.</p></div><div><h3>Results</h3><p>The significant downregulation of <em>LINC00365</em> (66.3%) and <em>RP11-354K4.2</em> (62.7%) were observed in GC samples; while the upregulation of <em>LINC01389, RP11-138J23.1</em>, <em>TWIST1</em>, <em>MMP13</em>, <em>MAML1</em>, <em>CD44s</em>, and <em>SALL4</em> were found in 67.5%, 45.8%, 56.6%, 44.6%, 59%, 55.4%, and 62.7% tumors samples at the mRNA level, respectively. Dysregulation of these lncRNAs and EMT-related markers was significantly related to each other in a variety of clinicopathological features of patients (<em>P</em> &lt; 0.05), indicating positive correlations between <em>LINC01389, LINC00365, RP11-138J23.1</em>, and <em>RP11-354K4.2</em> with EMT status in GC.</p></div><div><h3>Conclusion</h3><p>These EMT-regulating lncRNAs may play a key role in transforming gastric epithelial to mesenchymal phenotype and can be novel therapeutic targets for GC. Our results highlight the importance of discovering new lncRNAs involved in gastric carcinogenesis. Detailed molecular mechanisms of these noncoding-coding markers in GC are urgently required.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10813659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-intuitive trends of fetal fraction development related to gestational age and fetal gender, and their practical implications for non-invasive prenatal testing","authors":"Natalia Forgacova ,&nbsp;Juraj Gazdarica ,&nbsp;Jaroslav Budis ,&nbsp;Marcel Kucharik ,&nbsp;Martina Sekelska ,&nbsp;Tomas Szemes","doi":"10.1016/j.mcp.2022.101870","DOIUrl":"10.1016/j.mcp.2022.101870","url":null,"abstract":"<div><p>Discovery of fetal cell-free DNA fragments in maternal blood revolutionized prenatal diagnostics. Although non-invasive prenatal testing (NIPT) is already a matured screening test with high specificity and sensitivity, the accurate estimation of the proportion of fetal fragments, called fetal fraction, is crucial to avoid false-negative results. In this study, we collected 6999 samples from women undergoing NIPT testing with a single male fetus to demonstrate the influence of fetal fraction by the maternal and fetal characteristics. We show several fetal fraction discrepancies that contradict the generally presented conventional view. At first, the fetal fraction is not consistently rising with the maturity of the fetus due to a drop in 15 weeks of maturation. Secondly, the male samples have a lower fetal fraction than female fetuses, arguably due to the smaller gonosomal chromosomes. Finally, we discuss not only the possible reasons why this inconsistency exists but we also outline why these differences have not yet been identified and published. We demonstrate two non-intuitive trends to better comprehend the fetal fraction development and more precise selection of patients with sufficient fetal fraction for accurate testing.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0890850822000810/pdfft?md5=0334ccfdc49c29ae1552bd6907324478&pid=1-s2.0-S0890850822000810-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10448062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}