Prenatal Diagnostic Value of Chromosomal Microarray in Fetuses with Nuchal Translucency Greater than 2.5 mm

Abstract

Objective. To assess the clinical value of prenatal diagnosis using quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray analysis (CMA) for the examination of genomic imbalances in prenatal amniotic fluid samples from fetuses with a nuchal translucency (NT) greater than or equal to 2.5 mm. Materials and Methods. A total of 494 amniotic fluid samples and 5 chorionic villus samples were included in this study, with a fetal NT ≥ 2.5 mm at 11–13+6 weeks of gestation from November 2015 to December 2018. All cases were examined with QF-PCR, and those with normal QF-PCR results were then analyzed by CMA. Results. Of the 499 cases, common aneuploidies were detected by QF-PCR in 61 (12.2%) cases. One case of triploidy, one case of trisomy 21 mosaicism, and two cases of X/XX mosaicism were further confirmed by fluorescence in situ hybridization (FISH). Among the 434 cases with normal QF-PCR results, microarray detected additional pathogenic copy number variants (CNVs) in 4.8% (21/434) of cases. Six cases would have been expected to be detectable by conventional karyotyping because of large deletions/duplications (>10 Mb), leaving fifteen (3.5%, 15/428) cases with pathogenic CNVs only detectable by CMA. Pathogenic CNVs, especially those <10 Mb, were centralized in cases with an NT < 4.5 mm, including 5 pathogenic CNVs in cases with an NT of 2.5–3.5 mm and 7 pathogenic CNVs in cases with an NT of 3.5–4.5 mm. Conclusions. It is rational to use a diagnostic strategy in which CMA is preceded by a less-expensive, rapid method, namely, QF-PCR, to detect common aneuploidies. CMA allows for the detection of a number of pathogenic chromosomal aberrations in fetuses with an NT ≥ 2.5 mm.

Evaluation of the immunomodulatory effects of cobalt, copper and magnesium ions in a pro inflammatory environment

“…Regarding the response promoted by Mg 2+ , the increase in CD206 and the decrease in CCR7 and IL-1β observed at 24 h suggested that these ions could be stimulating a M2-like response, which was still maintained at 48 h, especially when macrophages were stimulated with medium and high (3200 and 12,800 μM) Mg 2+ concentrations, which induced CD206 and IL-10 expression while decreasing the levels of IL-1β. These results are in accordance with a previous study in which cell culture media supplemented with 0.4 and 20 mM Mg 2+ promoted an increase in the expression of CD206 and IL-10, while decreasing pro-inflammatory markers such as CCR7 and TNF-α 23 . Moreover, the release of magnesium ions from certain biomaterials such as magnesium microparticles has also promoted macrophage polarization towards an M2 phenotype 39 .…”

“…Nevertheless, releasing Cu 2+ from biomaterials could induce the M2 phenotype, suggesting that macrophage phenotype could be dependent on the concentration of the ion 22 . Recent reports have also suggested that Mg 2+ could have an immunomodulatory potential, since an increase in M2 related markers was observed 23 . Interestingly, certain levels of ions may have a positive effect on some cells lines, whereas these same concentrations can have detrimental effects on other cell types such as macrophages.…”

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

“…Group B: A total of 44 were secondarily excluded from quantitative analysis. Of these, 34 dealt with specific single-district malformations , 2 included postnatal cases [120,121], 3 dealt only with cases from fetuses' demise or livebirths [122][123][124], 3 did not provide a proper distinction between US features [125][126][127], 1 dealt familial cases of heart disease [128], and 1 concerned twin pregnancies [129]. A total of 71 papers were eligible for quantitative analysis [6,: 44 were retrospective studies, 12 were prospective, and 15 did not declare pro-or retrospectivity.…”

Patrolling human SLE haematopoietic progenitors demonstrate enhanced extramedullary colonisation; implications for peripheral tissue injury

“…In humanised mice, xenotransplanted SLE-PB HSPC-derived cells were more prone to colonise extramedullary organs such as kidneys but not the BM nor spleen [possibly due to decreased oxidative phosphorylation and self-renewal capabilities 32 ], when compared to Healthy-PB HSPCs. SLE-PB CD34 + and MPP progenitors may participate in local inflammatory reactions in the periphery due to their increased homing potential and altered T h activation 34 while could be promoting an aberrant haematopoietic “niche” 35 , 36 . Indeed, Noroozinia A. et al .…”