How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark

Objectives

We aimed to compare cell-based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell-free NIPT (cfNIPT).

Material and Methods

Study 1: Women (N = 92) who accepted CVS were recruited for cbNIPT (53 normal and 39 abnormal). Samples were analyzed with chromosomal microarray (CMA). Study 2: Women (N = 282) who accepted cfNIPT were recruited for cbNIPT. cfNIPT was analyzed using sequencing and cbNIPT by CMA.

Results

Study 1: cbNIPT detected all aberrations (32/32) found in CVS: trisomies 13, 18 and 21 (23/23), pathogenic copy number variations (CNVs) (6/6) and sex chromosome aberrations (3/3). cbNIPT detected 3/8 cases of mosaicism in the placenta. Study 2: cbNIPT detected all trisomies found with cfNIPT (6/6) and had no false positive (0/246). One of the three CNVs called by cbNIPT was confirmed by CVS but was undetected by cfNIPT, two were false positives. cbNIPT detected mosaicism in five samples, of which two were not detected by cfNIPT. cbNIPT failed in 7.8% compared to 2.8% in cfNIPT.

Conclusion

Circulating trophoblasts in the maternal circulation provide the potential of screening for aneuploidies and pathogenic CNVs covering the entire fetal genome.     

Reducing the environmental impact of coal-washing practice in Australia

All Australian coal for export is washed — that is, the low-grade high-ash material is separated out and disposed of at the washery site. The coarse rejects are generally placed in embankments and the tailings are pumped into settling ponds. These methods of waste disposal can create environmental problems. In addition, they represent a significant energy loss, because about one-third of the waste material is combustible and is thus a potentially valuable source of energy. Laboratory studies at the CSIRO Division of Fossil Fuels at North Ryde, New South Wales, have shown that energy can be successfully recovered from washery wastes by the process of fluidized-bed combustion. A pilot fluidized-bed combustor, with a capacity of 2 tonnes/hour, is undergoing prolonged trial at the Clutha washery near Camden, New South Wales, in a joint project between the Joint Coal Board and CSIRO. The results from the pilot plant tests have provided the basis for a conceptual design and feasibility study for a full-scale tailings treatment plant. This study has indicated that fluidized-bed combustion:

1. offers an environmentally attractive and economically competitive alternative to the disposal of tailings in settling ponds, and
2. can be used to generate large quantities of energy from the wastes, reducing the energy lost in coal washing from around 16% to 6% of the coal mined.

     

Integrated treatment and recycling of stormwater: a review of Australian practice

With the use of water approaching, and in some cases exceeding, the limits of sustainability in many locations, there is an increasing recognition of the need to utilise stormwater for non-potable requirements, thus reducing the demand on potable sources. This paper presents a review of Australian stormwater treatment and recycling practices as well as a discussion of key lessons and identified knowledge gaps. Where possible, recommendations for overcoming these knowledge gaps are given. The review of existing stormwater recycling systems focussed primarily on the recycling of general urban runoff (runoff generated from all urban surfaces) for non-potable purposes. Regulations and guidelines specific to stormwater recycling need to be developed to facilitate effective design of such systems, and to minimise risks of failure. There is a clear need for the development of innovative techniques for the collection, treatment and storage of stormwater. Existing stormwater recycling practice is far ahead of research, in that there are no technologies designed specifically for stormwater recycling. Instead, technologies designed for general stormwater pollution control are frequently utilised, which do not guarantee the necessary reliability of treatment. Performance modelling for evaluation purposes also needs further research, so that industry can objectively assess alternative approaches. Just as many aspects of these issues may have impeded adoption of stormwater, another impediment to adoption has been the lack of a practical and widely accepted method for assessing the many financial, social and ecological costs and benefits of stormwater recycling projects against traditional alternatives. Such triple-bottom-line assessment methodologies need to be trialled on stormwater recycling projects. If the costs and benefits of recycling systems can be shown to compare favourably with the costs and benefits of conventional practices this will provide an incentive to overcome other obstacles to widespread adoption of stormwater recycling.     

Modification of Glutamate Receptor Channels: Molecular Mechanisms and Functional Consequences

N  -methyl-d-aspartate (NMDA) types] by phosphorylation and changes in subunit composition. AMPA- and kainate-activated receptors are modulated by adenosine 3, 5-monophosphate (cAMP) dependent protein kinase A (PKA) coupled via D₁ dopamine receptors. An increase in the intracellular concentration of cAMP and protein kinase A potentiates kainate-activated currents in α-motoneurons of the spinal cord by increasing the affinity of the ligand (glutamate) for the phosphorylated receptor protein (GluR6 and 7). The rapid desensitization of AMPA-evoked currents normally observed in horizontal cells of the retina is completely blocked by increasing the intracellular concentration of cAMP. The effects of changes in subunit composition were examined in rat hippocampal neurons. The subunit composition of the NMDA receptor determines the kinetic properties of synaptic currents and can be regulated by the type of innervating neuron. Similar changes also occur during development. An important determinant here is the activity of the system. Dynamic regulation of excitatory receptors by both mechanisms may well be associated with some forms of learning and memory in the mammalian brain.