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51.
A woman in the 32nd week of pregnancy was referred for investigation because of fetal abnormalities, including an abdominal wall defect, detected by ultrasonography. In view of the increased risk of chromosome abnormality, amniocentesis was performed to enable informed decisions about the management of the pregnancy and delivery to be taken. Cells from the liquor were inoculated into standard lymphocyte culture medium and incubated for 72 h. Slides with a high mitotic index and good quality metaphases, comparable to those from a blood culture, were obtained after harvesting. Cytogenetic analysis showed the karyotype to be 46,XY,—14,+t(13ql4q), which is consistent with Patau's syndrome. This technique appears to be an option for rapid karyotyping in cases of abdominal wall defect, where a chromosomal abnormality is suspected.  相似文献   
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Objectives

To develop a flexible droplet digital PCR (ddPCR) workflow to perform non-invasive prenatal diagnosis via relative mutation dosage (RMD) for maternal pathogenic variants with a range of inheritance patterns, and to compare the accuracy of multiple analytical approaches.

Methods

Cell free DNA (cfDNA) was tested from 124 archived maternal plasma samples: 88 cases for sickle cell disease and 36 for rare Mendelian conditions. Three analytical methods were compared: sequential probability ratio testing (SPRT), Bayesian and z-score analyses.

Results

The SPRT, Bayesian and z-score analyses performed similarly well with correct prediction rates of 96%, 97% and 98%, respectively. However, there were high rates of inconclusive results for each cohort, particularly for z-score analysis which was 31% overall. Two samples were incorrectly classified by all three analytical methods; a false negative result predicted for a fetus affected with sickle cell disease and a false positive result predicting the presence of an X-linked IDS variant in an unaffected fetus.

Conclusions

ddPCR can be applied to RMD for diverse conditions and inheritance patterns, but all methods carry a small risk of erroneous results. Further evaluation is required both to reduce the rate of inconclusive results and explore discordant results in more detail.  相似文献   
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Procedures are developed and summarized that allow the calculation of the energy required to manufacture and install capital equipment, such as the material needed for a coalfired power plant. Three methods are available, each with certain strengths and weaknessess The first uses both literature value and national manufacturing statistics, the second uses a previously developed technique that disaggregates energy use according to how much each industry buys from all other industries, and the third technique is based on the average national relation between energy use and dollar flow. The most important differences between estimates of energy use by the different techniques relates to the inclusion or exclusion of labor and indirect expenditures rather than to differences in the data bases of the three techniques.  相似文献   
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Studies that evaluate determinants of residential water demand typically use data from a single spatial scale. Although household‐scale data are preferred, especially when econometric models are used, researchers may be limited to aggregate data. There is little, if any, empirical analysis to assess whether spatial scale may lead to ecological fallacy problems in residential water use research. Using linear mixed‐effects models, we compare the results for the relationship of single‐family water use with its determinants using data from the household and census tract scales in the city of Phoenix. Model results between the household and census tract scale are similar suggesting the ecological fallacy may not be significant. Common significant determinants on these two spatial scales include household size, household income, house age, pool size, irrigable lot size, precipitation, and temperature. We also use city/town scale data from the Phoenix metropolitan area to parameterize the linear mixed‐effects model. The difference in the parameter estimates of those common variables compared to the first two scales indicates there is spatial heterogeneity in the relationship between single‐family water use and its determinants among cities and towns. The negative relationship between single‐family house density and residential water use suggests that residential water consumption could be reduced through coordination of land use planning and water demand management.  相似文献   
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Both exposures to toxic metals, as well as deficiencies in essential metals, during pregnancy has been linked to a variety of negative reproductive outcomes. The exact etiologies of such outcomes and the effects of fetal exposure to these metals are largely unknown. Therefore, the ability to assess levels of these elements is critical to determining the underlying causes of such conditions and the effects that both essential and nonessential metals have on fetal development. Thus, using cell-free fetal RNA from amniotic fluid, we set out to measure the association between amniotic fluid levels of toxic and essential metals and fetal gene expression. We find that arsenic was associated with increased expression of 3 genes known to play roles in both birth-related and reproductive effects. The results highlight the potential for detrimental health effects of prenatal metals exposure and the potential to identify biomarkers of environmental exposure during this critical developmental period.  相似文献   
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