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Wang J.,West Health Institute | Wang J.,University of Sichuan | Liu Z.,University of Sichuan | Liu H.,West Health Institute | And 9 more authors.
Fetal Diagnosis and Therapy | Year: 2013

Objective: To validate multiplex ligation-dependent probe amplification (MLPA) with subtelomeric probe mixes as a tool for diagnosis of aneuploidy and unbalanced terminal chromosomal rearrangements in fetuses with congenital heart disease. Methods: A prospective study of 117 fetuses found to have structural heart defects by ultrasound at 17-40 weeks' gestation. MLPA with P036E and P070B probe mixes was performed and compared to traditional karyotyping by cell culture and to findings of quantitative fluorescence-polymerase chain reaction (QF-PCR). Results: MLPA was able to define the fetal karyotype in 99% of cases whereas cell culture only defined the karyotype in 64% of cases. Consequently, the overall number of chromosomal abnormalities that were detected increased. The majority of these affected chromosomes, 21, 18, 13, X or Y, were also confirmed by QF-PCR. Two (5%) cases had atypical aneuploidy that was confirmed by MLPA but not by QF-PCR. In 4 cases, structural rearrangements or mosaicism were not detected by MLPA. Conclusions: Subtelomeric MLPA may be a valuable adjunct to QF-PCR and/or conventional cytogenetics for the investigation of chromosomal abnormalities in fetuses with congenital heart disease. Copyright © 2013 S. Karger AG, Basel. Source

Liu Z.,University of Sichuan | Liu Z.,Laboratory of Molecular Epidemiology for Birth Defects | Wang J.,University of Sichuan | Wang J.,Laboratory of Genetics | And 11 more authors.
Pediatrics International | Year: 2015

Background Congenital heart disease (CHD) is one of the most common birth defects in newborns. The etiology of CHD has remained largely unknown, but it is assumed to result from the combined effects of genetic and environmental factors. Recent investigations have detected potentially pathogenic copy number variations (CNV) in a proportion of patients with CHD. The present case-control study evaluated whether CNV in the GATA4 and NKX2-5 genes contribute to the pathogenesis of CHD in Chinese fetuses (n = 117), by comparing them with non-CHD control subjects (n = 100). Methods Multiplex ligation-dependent probe amplification with the P311A probe mixture was used to detect CNV. Results The normalized signals were within the normal range for all exons in all CHD patients and non-CHD control subjects. Of the 117 CHD patients, three had a deletion of 22q11, and two had a duplication of 22q11. Conclusions There was no evidence of a role for NKX2-5 and GATA4 CNV in fetal CHD; therefore, these CNV may not be common in fetal CHD in China. © 2014 Japan Pediatric Society. Source

Han R.,Wuhan Integrated Traditional Chinese Medicine and Western Medicine Hospital | Huang L.,Tongji Hospital | Sun Z.,Tongji Hospital | Zhang D.,Wuhan Integrated Traditional Chinese Medicine and Western Medicine Hospital | And 3 more authors.
Fetal Diagnosis and Therapy | Year: 2014

Objectives: This study was designed to investigate the feasibility of apparent diffusion coefficient (ADC) values in evaluating normal fetal brain development from gestational week 24 up to term age. Methods: Diffusion-weighted imaging (DWI) was performed on 40 normal fetuses (with normal results on sonography and normal fetal MRI results), with two b-values of 0 and 600 s/mm2 in the three (x, y, z) orthogonal axes. Ten regions of interest (ROIs) were manually placed symmetrically in the bilateral frontal white matter (FWM), occipital white matter (OWM), thalamus (THAL), basal ganglia (BG), and cerebellar hemispheres (CH). ADC values of the ten ROIs in all subjects were measured by two radiologists independently. One-way ANOVA was used to calculate the differences among the five regions in the fetal brain and linear regression analysis was used to evaluate the correlation between ADC values and gestational age (GA). p < 0.05 was considered significantly different. Results: Mean GA was 31.3 ± 3.9 (range 24-41) weeks. The overall mean ADC values (×10-6 mm2/s) of the fetuses were 1,800 ± 214 (FWM), 1,400 ± 100 (BG), 1,300 ± 126 (THAL), 1,700 ± 133 (OWM) and 1,400 ± 155 (CH), respectively. The ADC value of BG was not significantly different from those of THAL and CH, while the other four ROIs had significant differences with each other. The ADC values of BG, THAL, OWM and CH had strong negative correlations with increasing GA (R were-0.568,-0.716,-0.830 and-0.700, respectively, all p < 0.01), OWM declined fastest with GA, followed by CH and THAL, the slowest being BG. The ADC value of FWM had no significant change with GA (p = 0.366). Conclusions: The measurement of ADC values is feasible to evaluate fetal brain development with high reliability and reproducibility. © 2014 S. Karger AG, Basel. Source

Wu Q.,Maternal and Child Health Hospital of Hubei | Zhang J.,Maternal and Child Health Hospital of Hubei | Hu Z.,Maternal and Child Health Hospital of Hubei
Journal Wuhan University of Technology, Materials Science Edition | Year: 2015

Carbon nanotubes (CNTs) were extensively explored for their beneficial use in nervous system tissue engineering. However, an important concern regarding the use of CNTs is their toxicity during the interaction between cells and the nano particles. The rat pheochromocytoma cell line (PC12) was co-cultured with three types of single-walled carbon nanotubes (SWNTs), purified raw SWNTs (C), hydroxyl purified SWNTs (C-OH) and carboxyl purified SWNTs (C-COOH) at 25 µg/mL and 100 µg/ml. The experimental results revealed that SWNTs at the concentration below 100 µg/mL did not affect the cell viability. Notably, powerful antioxidant system in nerous system tissue is able to counteract with the toxicity of CNTs, which is characterized by the prominently enhanced expression of main antioxidant enzymes (catalase (CAT), superoxide dismutase (SOD), glutathione peroxidase (GPx) and glutathione-S-transferase (GST)). Therefore, we believe that CNTs can be good candidates for the fabrication of biomedical scaffolds for the nerve tissue repair. © 2015, Wuhan University of Technology and Springer-Verlag Berlin Heidelberg. Source

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