Molecular prenatal diagnosis: the impact of modern technologies

Originally prenatal diagnosis was confined to the diagnosis of metabolic disorders and depended on assaying enzyme levels in amniotic fluid. With the development of recombinant DNA technology, molecular diagnosis became possible for some genetic conditions late in the 1970s. Here we briefly review the history of molecular prenatal diagnostic testing, using Duchenne muscular dystrophy as an example, and describe how over the last 30 years we have moved from offering testing to a few affected individuals using techniques, such as Southern blotting to identify deletions, to more rapid and accurate PCR-based testing which identifies the precise change in dystrophin for a greater number of families. We discuss the potential for safer, earlier prenatal genetic diagnosis using cell free fetal DNA in maternal blood before concluding by speculating on how more recent techniques, such as next generation sequencing, might further impact on the potential for molecular prenatal testing. Progress is not without its challenges, and as cytogenetics and molecular genetics begin to unite into one, we foresee the main challenge will not be in identifying the genetic change, but rather in interpreting its significance, particularly in the prenatal setting where we frequently have no phenotype on which to base interpretation. Copyright © 2010 John Wiley & Sons, Ltd.     

Relationships between soil and runoff phosphorus in small Alberta watersheds

Field-scale relationships between soil test phosphorus (STP) and flow-weighted mean concentrations (FWMCs) of dissolved reactive phosphorus (DRP) and total phosphorus (TP) in runoff are essential for modeling phosphorus losses, but are lacking. The objectives of this study were (i) to determine the relationships between soil phosphorus (STP and degree of phosphorus saturation (DPS)) and runoff phosphorus (TP and DRP) from field-sized catchments under spring snowmelt and summer rainfall conditions, and (ii) to determine whether a variety of depths and spatial representations of STP improved the prediction of phosphorus losses. Runoff was monitored from eight field-scale microwatersheds (2 to 248 ha) for 3 yr. Soil test phosphorus was determined for three layers (0 to 2.5 cm, 0 to 5 cm, and 0 to 15 cm) in spring and fall and the DPS was determined for the surface layer. Average STP (0 to 15 cm) ranged from 3 to 512 mg kg(-1), and DPS (0 to 2.5 cm) ranged from 5 to 91%. Seasonal FWMCs ranged from 0.01 to 7.4 mg L(-1) DRP and from 0.1 to 8.0 mg L(-1) TP. Strong linear relationships (r2=0.87 to 0.89) were found between the site mean STP and the FWMCs of DRP and TP. The relationships had similar extraction coefficients, intercepts, and predictive power among all three soil layers. Extraction coefficients (0.013 to 0.014) were similar to those reported for other Alberta studies, but were greater than those reported for rainfall simulation studies. The curvilinear DPS relationship showed similar predictive ability to STP. The field-scale STP relationships derived from natural conditions in this study should provide the basis for modeling phosphorus in Alberta.     

Fetoscopic myelomeningocoele closure: Is the scientific evidence enough to challenge the gold standard for prenatal surgery?

Since the completion of the Management of Myelomeningocoele Study, maternal-fetal surgery for spina bifida has become a valid option for expecting parents. More recently, multiple groups are exploring a minimally invasive approach and recent outcomes have addressed many of the initial concerns with this approach. Based on a previously published framework, we attempt to delineate the developmental stage of the surgical techniques. Furthermore, we discuss the barriers of performing randomized controlled trials comparing two surgical interventions and suggest that data collection through registries is an alternative method to gather high-grade evidence.     

Analytische Chemie in Deutschland — wohin?

Analytical Chemistry in the Federal Republic of Germany, when being compared with other branches of chemistry and with its situation in other countries, seems to have lost much of its importance. An analysis of the present situation, a historical survey and a prognostic picture are given by the authors, one being engaged in university work, the other in industrial research and analytical chemistry.     

Modelling of sequential groundwater treatment with zero valent iron and granular activated carbon

Multiple contaminant mixtures in groundwater may not efficiently be treated by a single technology if contaminants possess rather different properties with respect to sorptivity, solubility, and degradation potential. An obvious choice is to use sequenced units of the generally accepted treatment materials zero valent iron (ZVI) and granular activated carbon (GAC). However, as the results of this modelling study suggest, the required dimensions of both reactor units may strongly differ from those expected on the grounds of a contaminant-specific design. This is revealed by performing an analysis for a broad spectrum of design alternatives through numerical experiments for selected patterns of contaminant mixtures consisting of monochlorobenzene, tetrachloroethylene, trichloroethylene (TCE), cis-1,2-dichloroethylene (cis-DCE), and vinyl chloride (VC). It is shown that efficient treatment can be achieved only if competitive sorption effects in the GAC unit as well as the formation of intermediate products in the ZVI unit are carefully taken into account. Cost-optimal designs turned out to vary extremely depending on the prevailing conditions concerning contaminant concentrations, branching ratios, and unit costs of both reactor materials. Where VC is the critical contaminant, due to high initial concentration or extensive production as an intermediate, two options are cost-effective: an oversized ZVI unit with an oversized GAC unit or a pure GAC reactor.