Noninvasive prenatal diagnosis of aneuploidy using cell-free nucleic acids in maternal blood: promises and unanswered questions

The discovery of cell-free fetal (cff) DNA and RNA in the maternal circulation has driven developments in noninvasive prenatal diagnosis (NIPD) for the past decade. Detection of paternally derived alleles in cff DNA is becoming well established. Now much interest is focussing on NIPD of fetal chromosomal abnormalities, such as trisomy 21, which is a considerable challenge because this demands accurate quantitative measurements of the amounts of specific cff DNA or cff RNA sequences in maternal blood samples. Emerging strategies for distinguishing and quantifying the fetal nucleic acids in the maternal circulation promise continued development of the field, and pose a number of unanswered questions. Copyright © 2007 John Wiley & Sons, Ltd.     

Capitalizing on energy supply: Western China's opportunity for development

Two kinds of disparities pervade China and threaten its well-being. The first, regional disparities focus on levels of economic development, which vary considerably across China. The second is largely a corollary of the first, referring to mismatch in energy supply and demand, with some places suffering severe shortages while others are blessed with significant surpluses. Western China enjoys the dubious distinction of recording the country's lowest levels of economic development while, paradoxically, being blessed with plentiful reserves of energy and non-energy minerals. Turning those surplus resources to good account through transferring them to minerals and energy-hungry Eastern China is seen by policy-makers as something of a panacea. Not only will such a strategy significantly boost Western China's economic prospects, but it will eliminate the resource shortages currently constraining the East's vibrant growth. The issues of regional disparities, energy mismatches and transfers of these resources are discussed, with attention given to both spatial and time perspectives. The paper concludes with a cautious endorsement of the policy initiatives that promote the strategy of mineral transfers.     

The fate of the poor in growing mineral and energy economies

There are frequent suggestions that countries specializing in mineral and energy extraction have a type of growth that is bad for the poor. Others claim that extraction-led growth is particularly good for the poor. Both claims are made without the support of substantial empirical evidence. This paper uses longitudinal data on income growth by quintile in 57 developed and developing countries to statistically assess how mineral and energy extraction has affected the relationship between growth and the poor. We can find no evidence that the data support either the claim that extraction-led growth is good for the poor or that extraction-led growth is bad for the poor. This finding does not rule out that extractive activity can have special positive or negative impacts on the poor in some countries or regions. Rather, it simply brings to light that such effects are not evident as a persistent statistical phenomenon in the national level data that are available, which may be why the debate tends to move along without resolution.     

An analysis of future platinum resources,emissions and waste streams using a system dynamic model of its intentional and non-intentional flows and stocks

Platinum is increasingly used intentionally and non-intentionally in several applications. This has raised the concern about its future resources, emissions and losses during its life cycle. On the one hand, increasing platinum emissions might affect human health. On the other hand, the accumulated platinum in mineral waste, soil, landfill sites and construction materials as a result of the emissions, losses and the utilization of secondary materials can be seen as potential resources for platinum. This paper is aimed at (1) analyzing the long term impacts of the use of platinum intentionally and non-intentionally on its future demand and supply, release to the environment and accumulation in mineral waste, soil, landfill sites and construction materials and (2) quantifying the amount of platinum in secondary materials that would be available for platinum future supply. The analysis is carried out on a global level using a system dynamic model of platinum intentional and non-intentional flows and stocks. The analysis is based on four scenarios for the introduction of fuel cell vehicles (FCVs). The results show that platinum demand is increasing overtime in all scenarios at different rates and its identified resources are expected to deplete before the end of the century with or without the introduction of FCVs. The release of platinum to the environment and the accumulation in soil are expected to decrease when conventional ICE vehicles is replaced by FCVs. The amount of platinum accumulated in mineral waste, soil, landfill sites and construction materials by the time platinum is depleted are more than double its identified resources and would be potential resources for platinum that are available in different parts of the world. The methodology presented in this paper can be used in the assessment of other technologies and other metals.     

Depth profiles of radiocarbon and carbon isotopic compositions of organic matter and CO2 in a forest soil

Depth profiles of the specific activities of (14)C and carbon isotopic compositions (Delta(14)C, delta(13)C) in soil organic matter and soil CO(2) in a Japanese larch forest were determined. For investigating the transport of CO(2) in soil, specific activities of (14)C, Delta(14)C and delta(13)C in the organic layer, and atmospheric CO(2) in the same forest area were also determined. The specific activity of (14)C and Delta(14)C in the soil organic matter decreased with the increase in depth of 0-60cm, while that of soil CO(2) did not vary greatly at a soil depth of 13-73cm and was more prevalent than that of atmospheric CO(2). Peaks of specific activities of (14)C appeared at the depth of 0-4cm and Delta(14)C values were positive in the depth range from 0 to 15cm. These results suggest that the present soil at a depth of 0-4cm had been produced from the mid-1950s up until 1963, and the bomb C had reached the depth of 15cm in the objective soil area. The delta(13)C in the soil organic matter increased at the depth of 0-55cm, while that of soil CO(2) collected on 8 November 2004 decreased rapidly at the depth of 0-13cm and only slightly at the depth of 53-73cm. By combining the Delta(14)C and delta(13)C of the respective components and using the Keeling plot approach it was made clear that the entering of atmospheric CO(2) showed a large contribution to soil CO(2) at the depth of 0-13cm and a negligible contribution at the depth of 53-73cm for soil air collected on 8 November 2004. Respiration of live roots was presumed to be the main source of soil CO(2) at the depth of 53-73cm on 8 November 2004.     

Prenatal diagnosis of trisomy 6 mosaicism

We report on a fetus with multiple congenital anomalies detected at the prenatal ultrasound examination and a trisomy 6 mosaicism in the amniocytes. The pregnancy was interrupted in the 18th gestational week and the autopsy revealed malformations including cleft right hand, arthrogryposis and hypoplasia of the 4th digit of the left hand, syndactylies and overlapping toes, facial dysmorphism with hypertelorism and low-set ears, ventricular septum defect (VSD), intestinal malrotation and scoliosis. Trisomy 6 mosaicism was detected in cultured amniocytes (13.3%), confirmed in umbilical cord fibroblasts (40%) and by fluorescence in situ hybridization on other fetal tissues. Trisomy 6 mosaicism is a very rare finding with only eight cases previously reported to our best knowledge. Copyright © 2005 John Wiley & Sons, Ltd.