Detection of low-grade mosaicism in fetal cells isolated from maternal blood

Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.     

Non-invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches

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.     

Vitamins,folic acid and neural tube defects: Comments on investigations in the United States

No clear answer concerning whether multivitamin/folate supplementation prevents neural tube defects (NTDs) is provided by three studies in the United States. All these studies are occurrence in nature, no recurrence studies having been conducted. The Atlanta Birth Defects Study is subject to pronounced memory and recall biases, the length between event and interview being as long as 16 years. In a second study (Boston University), objections can be raised to certain aspects of the experimental design, and the claim that 22 per cent of women started vitamins sufficiently early after pregnancy diagnosis to influence NTD formation is suspicious. Our NICHD case control study of 541 women in California and Illinois revealed no evidence for multivitamins or folic acid preventing NTDs. U.S. public policy-makers face difficulties in applying results of recurrence or occurrence studies in high-risk areas to low-risk areas in the U.S.     

Mangrove vulnerability modelling in parts of Western Niger Delta, Nigeria using satellite images, GIS techniques and Spatial Multi-Criteria Analysis (SMCA)

Mangroves are known for their global environmental and socioeconomic value. Despite their importance, mangrove like other ecosystems is now being threatened by natural and human-induced processes that damage them at alarming rates, thereby diminishing the limited number of existing mangrove vegetation. The development of a spatial vulnerability assessment model that takes into consideration environmental and socioeconomic criteria, in spatial and non-spatial formats has been attempted in this study. According to the model, 11 different input parameters are required in modelling mangrove vulnerability. These parameters and their effects on mangrove vulnerability were selected and weighted by experts in the related fields. Criteria identification and selection were mainly based on effects of environmental and socioeconomic changes associated with mangrove survival. The results obtained revealed the dominance of socioeconomic criteria such as population pressure and deforestation, with high vulnerability index of 0.75. The environmental criteria was broadly dispersed in the study area and represents vulnerability indices ranging from 0.00?C0.75. This category reflects the greater influence of pollutant input from oil wells and pipelines and minimal contribution from climatic factors. This project has integrated spatial management framework for mangrove vulnerability assessment that utilises information technology in conjunction with expert knowledge and multi-criteria analysis to aid planners and policy/ decision makers in the protection of this very fragile ecosystem.     

Local Perceptions of Changes in Traditional Ecological Knowledge: A Case Study from Malekula Island,Vanuatu

Traditional ecological knowledge (TEK) is a critical global resource that may be eroding amid social and environmental change. Here, we present data on local perceptions of TEK change from three communities on Malekula Island in Vanuatu. Utilizing a structured interview (n = 120), we find a common perception of TEK loss. Participants defined two key periods of TEK erosion (roughly 1940–1960 and 1980–present), and noted that TEK decline was driven both external (e.g., church) and internal (e.g., shifting values) processes. Erosion was perceived to more comprehensive in the worldview domain than in aspects of ethnobiological knowledge and practice. These data indicate the perceived fragility of TEK systems and the complexity of TEK change. TEK systems are critical to natural resource management, and data such as these will assist in designing nuanced responses to the ongoing loss of cultural knowledge and practice.     

Anatomic correlates of ultrasonographic prenatal diagnosis

In utero sonographic diagnoses from forty-five malformed infants were correlated with their autopsy findings. Fifty-two malformations were diagnosed prenatally in 42 of the patients but 90 additional malformations were not. Nine sonographically diagnosed abnormalities were not confirmed at autopsy. Factors compromising sonographic diagnosis included: limited examinations, small fetal size, timing of examination, oligohydramnios, fetal position, nature of the malformation and unfamiliarity of the ultrasonographer with specific malformation syndromes. In vitro ultrasonography is an invaluable tool of diagnosing congenital malformations but has limitations.     

Enforcement and price controls in emissions trading

This paper examines how enforcement affects the structure and performance of emissions trading programs with price controls under uncertainty about firms' abatement costs. The analysis highlights how an enforcement strategy can cause abatement-cost risk to be transmitted to enforcement costs via the price of permits. When this occurs, accommodating the effect of abatement-cost risk with an optimal policy results in higher expected emissions and lower expected permit price than their second-best optimal values. However, it is possible to design an enforcement strategy that shields enforcement costs from abatement-cost risk by tying sanctions directly to permit prices. This enforcement strategy stabilizes enforcement effort, the optimal permit supply and price controls are independent of enforcement costs, and the policy produces the second-best optimal outcome.     

Effects of flow regimes altered by dams on survival, population declines, and range-wide losses of California river-breeding frogs

Widespread alteration of natural hydrologic patterns by large dams combined with peak demands for power and water delivery during summer months have resulted in frequent aseasonal flow pulses in rivers of western North America. Native species in these ecosystems have evolved with predictable annual flood-drought cycles; thus, their likelihood of persistence may decrease in response to disruption of the seasonal synchrony between stable low-flow conditions and reproduction. We evaluated whether altered flow regimes affected 2 native frogs in California and Oregon (U.S.A.) at 4 spatial and temporal extents. We examined changes in species distribution over approximately 50 years, current population density in 11 regulated and 16 unregulated rivers, temporal trends in abundance among populations occupying rivers with different hydrologic histories, and within-year patterns of survival relative to seasonal hydrology. The foothill yellow-legged frog (Rana boylii), which breeds only in flowing water, is more likely to be absent downstream of large dams than in free-flowing rivers, and breeding populations are on average 5 times smaller in regulated rivers than in unregulated rivers. Time series data (range = 8 - 19 years) from 5 populations of yellow-legged frogs and 2 populations of California red-legged frogs (R. draytonii) across a gradient of natural to highly artificial timing and magnitude of flooding indicate that variability of flows in spring and summer is strongly correlated with high mortality of early life stages and subsequent decreases in densities of adult females. Flow management that better mimics natural flow timing is likely to promote persistence of these species and others with similar phenology.     

Ambient air concentrations of PCDDs,PCDFs, coplanar PCBs,and PAHs at the Mississippi Sandhill Crane National Wildlife Refuge,Jackson County,Mississippi

Our objective was to determine the levels of selected airborne contaminants in ambient air at the Mississippi Sandhill Crane National Wildlife Refuge, Mississippi, that might be affecting the health of endangered cranes living there. Two high-volume air samplers were operated at separate locations on the Refuge during May–September 1991. The sampling media were micro-quartz filters in combination with polyurethane foam plugs. Composite bimonthly samples from each station were analyzed for polychlorinated dibenzo-p-dioxins (PCDDs), dibenzofurans (PCDFs), coplanar polychlorinated biphenyls (PCBs), and polycyclic aromatic hydrocarbons (PAHs). Overall, residue concentrations were low. The toxic PCDD isomer 2,3,7,8-tetra-CDD was not detected, nor was penta-CDD. There was no difference (P>0.05) in residue concentrations between stations or over time and meteorological parameters were not correlated with residue concentrations. Because contaminant levels and patterns may differ seasonally, we recommend that air samples collected during winter months also be analyzed for these same chemical groups.