The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

Recently, we have witnessed the rapid translation into clinical practice of non-invasive prenatal testing for the common aneuploidies, most notably within the United States and China. This represents a lucrative market with testing being driven by companies developing and offering their services. These tests are currently aimed at women with high/medium-risk pregnancies identified by serum screening and/or ultrasound scanning. Uptake has been impressive, albeit limited to the commercial sector. However, non-invasive prenatal diagnosis (NIPD) for single-gene disorders has attracted less interest, no doubt because this represents a much smaller market opportunity and in the majority of cases has to be provided on a bespoke, patient or disease-specific basis. The methods and workflows are labour-intensive and not readily scalable. Nonetheless, there exists a significant need for NIPD of single-gene disorders, and the continuing advances in technology and data analysis should facilitate the expansion of the NIPD test repertoire. Here, we review the progress that has been made to date, the different methods and platform technologies, the technical challenges, and assess how new developments may be applied to extend testing to a wider range of genetic disorders. © 2013 John Wiley & Sons, Ltd.     

Effects of sludge properties on the thickening and dewatering of waste activated sludge.

The thickening and dewatering of waste activated sludge, from a pilot-scale submerged membrane bioreactor and two bench-scale, complete-mix activated sludge reactors (high-shear and low-shear aeration) treating the same municipal primary effluent, were investigated. Solids settling and compaction were measured using the diluted sludge volume index (DSVI) analysis and a batch centrifugation analysis, respectively. Elevated levels of filamentous microorganisms resulted in higher DSVI values and lower centrifuged pellet concentration. Elevated levels of nocardioform bacteria resulted in lower solids float concentrations, and higher colloidal material reduced solids recovery in batch flotation experiments. Sludge filterability, measured as time-to-filter, was shown to be a function of extracelluar polymeric substances and colloidal material, where higher levels of either reduced sludge filterability. Additional research is necessary to confirm these results using full- or demonstration-scale thickening and dewatering units.     

Age and growth of co-occurring larvae of two flounder species,Rhombosolea tapirina and Ammotretis rostratus

Daily growth increments on otoliths were used to age larvae of the pleuronectid fluonders Rhombosolea tapirina Günther and Ammotretis rostratus Günther, collected from Port Phillip Bay, Victoria, Australia, in winter 1984. Daily formation of growth increments was confirmed for R. tapirina by examining the growth of the marginal increment on otoliths of larvae collected over two 24h periods in winter 1985. The first distinctive growth increment was laid down approximately 5 d after hatching, at the onset of external feeding. Growth of flounder larvae was exponential from an early feeding stage to notochord flexion at approximately 30 d after hatching. The specific growth rate was very similar for the two species, at slightly over 4% of standard length per day. Predicted absolute growth rate of R. tapirina larvae increased from approximately 0.10 mm d^-1 in early feeding larvae to approximately 0.23 mm d^-1 in flexion-stage larvae, compared with 0.12 to 0.28 mm d^-1 for A. rostratus larvae of equivalent ages. Exponential models did not adequately describe growth of first-feeding larvae, which was slower than predicted. Growth in the field was faster than that recorded for the same species in the laboratory at higher water temperatures and prey abundances. Otolith growth accelerated markedly in relation to growth in length at the beginning of metamorphosis, causing a significant alteration in the morphology of growth increments, and eventually leading to the cessation of production of visible increments.