Evaluation of X,Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescence in situ hybridization

The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with, X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.     

Incremental cost-effectiveness of incorporating oestriol evaluation in down syndrome screening programmes

As screening for Down syndrome becomes increasingly sophisticated, it is important to evaluate the newer technologies in terms of their cost-effectiveness. One recent addition to Down syndrome screening programmes is maternal serum unconjugated oestriol (uE₃), especially when used in conjunction with maternal serum α-fetoprotein and human chorionic gonadotropin. Using assumptions used in a California proposal to justify an expanded screening programme for Down syndrome, we calculated both the average and the incremental cost-effectiveness of adding uE₃. Using the base case assumptions, including an $8 fee for the uE₃, the incremental cost-effectiveness of adding uE₃ to the proposed California programme is $119 100 per case detected, a value that compares favourably with other Down syndrome screening programmes. The sensitivity analysis supports this conclusion over a wide range of assumptions. However, because of the uncertainty with some key data, it is still too early to fully support the inclusion of uE₃ in Down syndrome screening programmes.     

The association between alpha-fetoprotein and βhcg levels prior to and following chorionic villus sampling in cases that spontaneously miscarried

Maternal serum alpha-fetoprotein (AFP) and beta-human chorionic gonadotropin (βhCG) measurements taken prior to chorionic villus sampling (CVS) in 21 patients who subsequently miscarried were compared with measurements in a control group of 113 patients with uneventful pregnancies. Patients with AFP levels of 10 iu/ml or more prior to the CVS had a 4·3 times greater risk of miscarriage (95 per cent confidence interval 1·3–13·6). AFP levels obtained 1 week after the CVS in the 13 patients with late miscarriages were higher than in the control group (P = 0·06). Patients miscarrying had a greater rise in AFP (P = 0·06) and a greater fall in βhCG levels (P = 0·04) following the CVS procedure, compared with the control subjects. Each 10-unit change in the difference between AFP or βhCG levels prior to and 1 week following the CVS was associated with a significantly increased risk for late miscarriage. Elevated maternal serum AFP levels early in pregnancy and changes in AFP and βhCG levels following CVS may predict an increased risk for subsequent miscarriage.     

Pitfalls in the prenatal diagnosis of peroxisomal β-oxidation defects by chorionic villus sampling

Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid β-oxidation defect, and the other at risk for the X-linked form of adrenoleucodystrophy (ALD). Cells from early subcultures of chorionic cells from both cases gave normal values for VLCFA ratios. The results for the fetus at risk for the β-oxidation defect were interpreted to indicate that the fetus was not affected; however, at birth, the infant was clinically and biochemically affected. In the case of the fetus at risk for X-linked ALD, although VLCFAs were normal in subculture 1, the levels of these fatty acids increased dramatically in subculture 3, suggesting an abnormal fetus. Termination of the pregnancy and subsequent biochemical and morphological follow-up confirmed that the fetus was indeed affected by ALD.     

A Multi‐Scale Analysis of Single‐Family Residential Water Use in the Phoenix Metropolitan Area

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.     

Behavioral Traits and Airport Type Affect Mammal Incidents with U.S. Civil Aircraft

Wildlife incidents with aircraft cost the United States (U.S.) civil aviation industry >US$1.4 billion in estimated damages and loss of revenue from 1990 to 2009. Although terrestrial mammals represented only 2.3 % of wildlife incidents, damage to aircraft occurred in 59 % of mammal incidents. We examined mammal incidents (excluding bats) at all airports in the Federal Aviation Administration (FAA) National Wildlife Strike Database from 1990 to 2010 to characterize these incidents by airport type: Part-139 certified (certificated) and general aviation (GA). We also calculated relative hazard scores for species most frequently involved in incidents. We found certificated airports had more than twice as many incidents as GA airports. Incidents were most frequent in October (n = 215 of 1,764 total) at certificated airports and November (n = 111 of 741 total) at GA airports. Most (63.2 %) incidents at all airports (n = 1,523) occurred at night but the greatest incident rate occurred at dusk (177.3 incidents/hr). More incidents with damage (n = 1,594) occurred at GA airports (38.6 %) than certificated airports (19.0 %). Artiodactyla (even-toed ungulates) incidents incurred greatest (92.4 %) damage costs (n = 326; US$51.8 million) overall and mule deer (Odocoileus hemionus) was the most hazardous species. Overall, relative hazard score increased with increasing log body mass. Frequency of incidents was influenced by species relative seasonal abundance and behavior. We recommend airport wildlife officials evaluate the risks mammal species pose to aircraft based on the hazard information we provide and consider prioritizing management strategies that emphasize reducing their occurrence on airport property.     

An Exploration of Scenarios to Support Sustainable Land Management Using Integrated Environmental Socio-economic Models

Scenario analysis constitutes a valuable deployment method for scientific models to inform environmental decision-making, particularly for evaluating land degradation mitigation options, which are rarely based on formal analysis. In this paper we demonstrate such an assessment using the PESERA–DESMICE modeling framework with various scenarios for 13 global land degradation hotspots. Starting with an initial assessment representing land degradation and productivity under current conditions, options to combat instances of land degradation are explored by determining: (1) Which technologies are most biophysically appropriate and most financially viable in which locations; we term these the “technology scenarios”; (2) how policy instruments such as subsidies influence upfront investment requirements and financial viability and how they lead to reduced levels of land degradation; we term these the “policy scenarios”; and (3) how technology adoption affects development issues such as food production and livelihoods; we term these the “global scenarios”. Technology scenarios help choose the best technology for a given area in biophysical and financial terms, thereby outlining where policy support may be needed to promote adoption; policy scenarios assess whether a policy alternative leads to a greater extent of technology adoption; while global scenarios demonstrate how implementing technologies may serve wider sustainable development goals. Scenarios are applied to assess spatial variation within study sites as well as to compare across different sites. Our results show significant scope to combat land degradation and raise agricultural productivity at moderate cost. We conclude that scenario assessment can provide informative input to multi-level land management decision-making processes.