A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings

Background: Array comparative genomic hybridization (aCGH), karyotyping and fluorescence in situ hybridization (FISH) analyses have been used in a clinical cytogenetic laboratory. A systematic analysis on diagnostic findings of cytogenomic abnormalities in current prenatal and pediatric settings provides approaches for future improvement.Methods: A retrospective analysis was performed on abnormal findings by aCGH, karyotyping, and FISH from 3,608 prenatal cases and 4,509 pediatric cases during 2008–2017. The diagnostic accuracy was evaluated by comparing the abnormality detection rate (ADR) and the relative frequency (RF) of different types of cytogenomic abnormalities between prenatal and pediatric cases. A linear regression correlation between known prevalence and ADR of genomic disorders was used to extrapolate the prevalence of other genomic disorders. The diagnostic efficacy was estimated as percentage of detected abnormal cases by expected abnormal cases from served population.Results: The composite ADR for numerical chromosome abnormalities, structural chromosome abnormalities, recurrent genomic disorders, and sporadic pathogenic copy number variants (pCNVs) in prenatal cases were 13.03%, 1.77%, 1.69%, and 0.9%, respectively, and were 5.13%, 2.84%, 7.08%, and 2.69% in pediatric cases, respectively. The chromosomal abnormalities detected in prenatal cases (14.80%) were significantly higher than that of pediatric cases (7.97%) (p
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research

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In conclusion, fetal pleural effusion has a close correlation with chromosomal abnormality. CMA may increase the detection rate of chromosomal aberrations, especially for micro-deletion or micro-duplication syndromes. In the South of China, Thalassemia must be considered when a fetal pleural effusion is detected.Impact statementWhat is already known on this subject? The aetiology of fetal pleural effusion includes a chromosomal abnormality, a congenital heart disease, congenital infections and a number of genetic syndromes.What do the results of this study add? This is the first retrospective study to analyse the aetiology...
Source: Journal of Obstetrics and Gynaecology - Category: OBGYN Tags: J Obstet Gynaecol Source Type: research
Publication date: Available online 6 December 2019Source: Physiology &BehaviorAuthor(s): Chris K. Elvidge, Steven J. CookeAbstractA large body of literature suggests that physically exhausted fish, including those that are released following fisheries interactions, experience behavioural and cognitive constraints and are at elevated risk of predation during homeostatic recovery. However, previous studies have focused on exhausted fish subsequently encountering predators, and not on fish that had been exposed to elevated predation risk prior to exhaustive exercise. Here, we exercised individual schoolmaster snapper (Lut...
Source: Physiology and Behavior - Category: Physiology Source Type: research
Publication date: Available online 7 December 2019Source: Fish &Shellfish ImmunologyAuthor(s): Ximei Liang, Fang Wang, Kaibin Li, Xiangping Nie, Hansun FangAbstractNorfloxacin nicotinate (NOR-N), an adduct of norfloxacin (NOR) and nicotinic acid, has been widely used for replacing NOR in animal husbandry and fishery industry. Nowadays, increasing evidences showed that NOR could pose toxic effects on fish and other aquatic organisms, but as its adduct, whether NOR-N could cause adverse effects on aquatic organisms is still unclear. To evaluate the toxic effects of NOR-N on the early life stage of zebrafish, we determine...
Source: Fish and Shellfish Immunology - Category: Biology Source Type: research
In this study, we used juvenile male tilapia (Oreochromis niloticus) as an animal model to test for endocrine disruption by chemicals. We measured 17β-estradiol (E2) concentrations, and the mRNA relative expression ratio (RER; treatment/control) of vitellogenin (vtg2) and estrogen receptors (ERs) to assess whether the effluent concentration of selected plasticizers disrupt E2 function in fish. We found that the vtg2 RER was significantly increased after exposure to 2.52 nM E2 for 5 days, 0.438 μM of bisphenol A (BPA) for 7 days, or 2.865 μM Cd2+ for 7 days. These data support vtg2 transcript level as...
Source: Comparative Biochemistry and Physiology Part C: Toxicology and Pharmacology - Category: Toxicology Source Type: research
We examined the relationships among dietary patterns, dietary biomarkers, and metabolic indicators in type 2 diabetes (n = 871). Design: Diabetic patients (n = 871) who provided complete clinical and dietary data in both 2008 and 2009 were selected from a cohort participating in a diabetic control study in Taiwan. Dietary data were obtained using a short, semiquantitative food frequency questionnaires, and dietary pattern identified by factor analysis. Multiple linear regressions were used to analyze the association between dietary biomarkers (ferritin, folate, and erythrocyte n-3 polyunsaturated fatty acids [n-3 PUFA...
Source: Food and Nutrition Research - Category: Nutrition Authors: Tags: Food Nutr Res Source Type: research
Abstract Lutjanids are marine fish and commonly inhabit coral reefs, which have migratory habits and feed in a general way, due to these characteristics, are susceptible to infections by parasites, such as cuculanid nematodes. This work aimed to report for the first time, the occurrence of Dichelyne (Dichelyne) bonacii in Brazil, in two new hosts, Lutjanus analis and Rhomboplites aurorubens, acquired from local artisanal fishermen at the Aracaju city public fishing terminal (10 ° 54'17 "S37 ° 2'56" W), northeast coast of Brazil. Adult nematodes were collected from the intestinal tract of the host...
Source: An Acad Bras Cienc - Category: Science Authors: Tags: An Acad Bras Cienc Source Type: research
CONCLUSIONS: DGCR5 enhances NSCLC cell migration and invasion via targeting miR-218-5p, indicating that DGCR5 may be a potential therapeutic target in NSCLC. PMID: 31799664 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
Contributors : Sebastian Boltana ; Andrea AguilarSeries Type : Expression profiling by high throughput sequencingOrganism : Salmo salarThe transcriptomic analysis was evaluated using RNA-seq of salmon challenged with the birnavirus IPNv under two different thermal conditions: (a) constant temperature (mean temperature 15 ± 0.9 ºC, “No-Fever”) and (b) temperature gradient (mean temperature 15 ± 7.4 ºC, “Fever”). In parallel, fish in another tank were treated by adding 100 ml virus free cell culture supernatant to the water (mean temperature 15 ± 7.4 ºC, "mock-...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Salmo salar Source Type: research
CONCLUSIONS: The prevalence of NC/GA/S varies widely across CHD diagnostic groups. This information may be useful for patient counseling, recommendations for screening for anomalies and genetic disorders, and perioperative management. PMID: 27319986 [PubMed - as supplied by publisher]
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: Ann Thorac Surg Source Type: research
Conclusions The prevalence of NC/GA/S varies widely across CHD diagnostic groups. This information may be useful for patient counseling, recommendations for screening for anomalies and genetic disorders, and perioperative management.
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
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