Pregnancies with fetal trisomy 21 have been associated with low amniotic fluid alpha-fetoprotein levels (AFAFP). This observation led to the suggestion that low AFAFP levels be used as a criterion for completion of a chromosomal analysis in patients who are not otherwise at increased risk for a fetal chromosome abnormality and in whom karyotyping might not have been completed for economic reasons. In order to assess the usefulness of such criteria, we reviewed the AFAFP levels of 90 cases of fetal trisomy 21, 23 cases of trisomy 18, and 10 cases of trisomy 13. These were compared with 2400 control samples with normal chromosome constitution. AFAFP levels were generally lower in pregnancies with trisomy 21, showing a median value of 0·72 MoM. However, 40 per cent of the trisomy 21 samples had AFAFP values greater than 0·8 MoM and 20 per cent were over 1·0 MoM. These data imply that over 50 per cent of Down syndrome cases might have been missed using a cut-off level of 0·70 MoM for completion of chromosome analysis. Using a higher cut-off level will leave only a small percentage of samples unkaryotyped. The distribution of AFP levels in trisomy 13 and 18 is no different from controls; we therefore believe that fetal karyotyping should be completed in every amniotic fluid sample obtained. 相似文献
Monoclonal antibody to fetal haemoglobin (a2γy2) has been proposed as a fetal-specific reagent. We developed an intracellular staining protocol that combines fluorescein isothiocyanate or phycoerythrin conjugated anti-γ with the DNA binding dye Hoechst 33342 to identify and flow sort fetal erythroblasts from maternal blood. Our preliminary observations on anti-γ-positive cells sorted from four different pregnant women are described here, using fluorescence in situ hybridization (FISH) with chromosome-specific probes to identify fetal cells. Our data demonstrate that far fewer candidate fetal cells are sorted with this protocol than by current cell surface staining methods that employ the monoclonal antibody CD71. This results in increased fetal cell sorting purities. With this protocol, standard FISH techniques require modification due to the rigorous fixation with 4 per cent paraformaldehyde. Our initial data indicate the promise of this approach. 相似文献
The objective of this study was to detect fetal HLA-DQα gene sequences in maternal blood. HLA-DQα genotypes of 70 pregnant women and their partners were determined for type A1. We specifically sought couples where the father, but not the mother, had genotype A1. In 12 women, maternal blood samples were flow-sorted. Candidate fetal cells were isolated and amplified by using PCR primers specific for a paternal HLA-DQα A1 allele. Fetal HLA-DQα A1 genotype was predicted from sorted cells; amniocytes or cheek swabs were used for confirmation. Six of twelve sorted samples had amplification products indicating the presence of the HLA-DQα A1 allele; 6/12 did not. Prediction of the fetal genotype was 100 per cent correct, as determined by subsequent amplification of amniocytes or cheek swabs. We conclude that paternally inherited uniquely fetal HLA-DQα gene sequences can be identified in maternal blood. This system permits the identification of fetal cells independent of fetal gender, and has the potential for non-invasive prenatal diagnosis of paternally inherited conditions. 相似文献
Can Gio district is located in the coastal area of Ho Chi Minh City, southern Vietnam. Discharge of wastewater from Ho Chi Minh City and neighboring provinces to the rivers of Can Gio has led to concerns about the accumulation of trace metals (As, Cu, Cr, Ni, Pb, and Zn) in the coastal sediments. The main objective of this study was to assess the distribution of As, Cu, Cr, Ni, Pb, and Zn in surface and core sediments and to evaluate the contamination status in relation to local background values, as well as the potential release of these selected trace metals from sediments to the water environment. Sediment characteristization, including determination of fine fraction, pH, organic matter, and major elements (Al, Fe, Ca, K, Mg, and S), was carried out to investigate which parameters affect the trace metal enrichment. Fine fraction and Al contents were found to be the controlling proxies affecting the distribution of trace metals while other sediment characteristics did not show any clear influence on trace metals’ distribution. Although As concentrations in the sediments were much higher compared to its reference value in other areas, the enrichment factor based on local background values suggests minor contamination of this element as well as for Cr, Cu, and Pb. Risk assessment suggested a medium to very high risk of Mn, Zn, and Ni under acidification. Of importance is also that trace metals in sediments were not easily mobilized by organic complexation based on their low extractabilities by ammonium-EDTA extraction.
This study examined concentrations of 15 perfluoroalkyl acids (PFAAs) in tissues from male Mozambique tilapia (Oreochromis mossambicus) collected at Loskop Dam, Mpumalanga, South Africa in 2014 and 2016. Nine of the 15 PFAAs were detected frequently and were included in statistical analysis and included two of the most commonly known PFAAs, perfluorooctanesulfonic acid (PFOS) (median, 41.6 ng/g) and perfluorooctanoic acid (PFOA) (median, 0.0825 ng/g). Of the tissues measured, plasma (2016 and 2014 median, 22.2 ng/g) contained the highest PFAA burden followed by (in descending order): liver (median, 11.6 ng/g), kidney (median, 9.04 ng/g), spleen (median, 5.92 ng/g), adipose (median, 2.54 ng/g), and muscle (median, 1.11 ng/g). Loskop Dam tilapia have been affected by an inflammatory disease of the adipose tissue known as pansteatitis, so this study also aimed to investigate relationships between PFAA tissue concentrations and incidence of pansteatitis or fish health status. Results revealed that healthy tilapia exhibited an overall higher (p-value < 0.05) PFAA burden than pansteatitis-affected tilapia across all tissues. Further analysis showed that organs previously noted in the literature to contain the highest PFAA concentrations, such as kidney, liver, and plasma, were the organs driving the difference in PFAA burden between the two tilapia groups. Care must be taken in the interpretations we draw from not only the results of our study, but also other PFAA measurements made on populations (human and wildlife alike) under differing health status. 相似文献
Much of our understanding of physiology and metabolism is derived from investigating mouse mutants and transgenic mice, and
open-access platforms for standardized mouse phenotyping such as the German Mouse Clinic (GMC) are currently viewed as one
powerful tool for identifying novel gene-function relationships. Phenotyping or phenotypic screening involves the comparison of wild-type control mice with their mutant or transgenic littermates. In our study, we explored
the extent to which standardized phenotyping will succeed in detecting biologically relevant phenotypic differences in mice
generated and provided by different collaborators. We analyzed quantitative metabolic data (body mass, energy intake, and
energy metabolized) collected at the GMC under the current workflow, and used them for statistical power considerations. Our
results demonstrate that there is substantial variability in these parameters among lines of wild-type C57BL/6 (B6) mice from
different sources. Given this variable background noise in mice that serve as controls, subtle phenotypes in mutant or transgenic
littermates may be overlooked. Furthermore, a phenotype observed in one cohort of a mutant line may not be reproducible (to
the same extent) in mice coming from a different environment or supplier. In the light of these constraints, we encourage
researchers to incorporate information on intrastrain variability into future study planning, or to perform advanced hierarchical
analyses. Both will ultimately improve the detectability of novel phenotypes by phenotypic screening.
Carola W. Meyer and Ralf Elvert contributed equally to this work. 相似文献
Foliar ionome, photosystem II activity, and leaf growth parameters of Ranunculus acris L., a potential biomonitor of trace element (TE) contamination and phytoavailability, were assessed using two riverbank soil series. R. acris was cultivated on two potted soil series obtained by mixing a TE (Cd, Cu, Pb, and Zn)-contaminated technosol with either an uncontaminated sandy riverbank soil (A) or a silty clay one slightly contaminated by TE (B). Trace elements concentrations in the soil-pore water and the leaves, leaf dry weight (DW) yield, total leaf area (TLA), specific leaf area (SLA), and photosystem II activity were measured for both soil series after a 50-day growth period. As soil contamination increased, changes in soluble TE concentrations depended on soil texture. Increase in total soil TE did not affect the leaf DW yield, the TLA, the SLA, and the photosystem II activity of R. acris over the 50-day exposure. The foliar ionome did not reflect the total and soluble TE concentrations in both soil series. Foliar ionome of R. acris was only effective to biomonitor total and soluble soil Na concentrations in both soil series and total and soluble soil Mo concentrations in the soil series B. 相似文献