Repeat maternal serum testing in multiple marker down's syndrome screening programmes

The effect of repeat testing in maternal serum multiple marker screening for Down's syndrome was estimated using samples stored in an antenatal serum bank. Human chorionic gonadotropin (hCG) and unconjugated oestriol (uE₃) levels were determined in 142 pairs of routinely collected samples which had already been tested for alpha-fetoprotein (AFP). For each marker, about two-thirds of the pairs of values were within 20 per cent of each other and most were within 40 per cent. A multivariate Gaussian model was used to estimate the detection and false-positive rates for different repeat testing policies. A policy of repeat testing those with a high risk of a Down's syndrome term pregnancy given age and marker levels would reduce the false-positive rate but there would also be a reduction in the detection rate. For example, using all three markers and a 1 in 250 cut-off risk, the estimated false-positive rate would fall from 5·3 to 3·8 per cent but the detection rate would decrease from 58 to 55 per cent. A policy of repeating those with either high or borderline risks would produce a modest improvement in screening efficiency. Repeating the 11 per cent with a risk exceeding 1 in 500 yields an estimated false-positive rate of 5·0 per cent and a detection rate of 60 per cent. A policy of selective repeat testing is not recommended as it would not substantially improve screening efficiency. Nonetheless, if a repeat test has been performed, the parameters given in this paper will enable an unbiased estimate of the Down's syndrome risk to be calculated for individual women.     

Prenatal detection of a de novo duplication of the long arm of chromosome 7

Amniocentesis was performed for maternal age and subsequent cytogenetic studies revealed a male fetus with a mosaic karyotype, one cell line having a duplication for the long arm of chromosome 7. The pregnancy was terminated and the two cell lines confirmed in varying proportions in the fetal tissues. External examination of the fetus revealed only growth retardation and a high forehead. The lack of phenotypic defects and the possible aetiology of the de novo rearrangement are considered.     

The impact of screening for open neural tube defects in England and Wales

Using information derived from the voluntary system of notification of congenital malformations in England and Wales, the birth prevalence of anencephaly and spina bifida was estimated to have declined by 80 per cent from 31.5 to 6.2 per 10 000 between 1964–1972 and 1985. Over the same period, notified terminations of pregnancy with a suspected fetal central nervous system abnormality increased from less than 1 per cent to 56 per cent of neural tube defect births and central nervous system terminations combined, accounting for 31 per cent of the decline in births. Routinely collected national statistics provide a method for monitoring the impact of screening for open neural tube defects. However because they are incomplete and lack detail an alternative method of monitoring is needed. This paper includes an outline of such a method, together with the results of a pilot study designed to assess the feasibility of monitoring screening in the Oxford Region.     

DNA fingerprints of a gorgonian coral: a method for detecting clonal structure in a vegetative species

Clonal reproduction, a common life history strategy among sessile marine invertebrates, can lead to high local abundances of one to a few genotypes in a population. Analysis of the clonal structure of such populations can provide insight into the ecological and evolutionary history of the population, but requires markers that can identify individual genets. Forensic and demographic studies have demonstrated that DNA fingerprinting can provide markers that are unique for an individual genotype. We have generated DNA fingerprints for over 70 colonies of the clonal gorgonian, Plexaura A (Plexaura sp. A) collected from June 1990 through July 1991 in the San Blas Islands, Panama. DNA fingerprints within a singic individual were identical and fingerprinting resolved multiple genotypes within and among reefs. On one reef in the San Blas Islands, Panama, 59% of the colonies sampled were of one genotype and this genotype was not found on any other sampled reefs. A previous study using tissue grafts identified 13 putative clones on these reefs, while DNA fingerprints of the same colonies differentiated 17 genotypes. The present study demonstrates the utility of DNA fingerprinting for distinguishing clones and for identifying clonal structure of marine invertebrate populations.     

Shifting foraging strategies in colonies of the social wasp Polybia occidentalis (Hymenoptera, Vespidae)

Social insect colonies can be expected to forage at rates that maximize colony fitness. Foraging at higher rates would increase the rate of worker production, but decrease adult survival. This trade-off has particular significance during the founding stage, when adults lost are not replaced. Prior work has shown that independent-founding wasps rear the first workers rapidly by foraging at high rates. Foraging rates decrease after those individuals pupate, presumably reducing the risk of foundress death. In the swarm-founding wasps, colony-founding units have many workers, making colony death by forager attrition less likely. Do swarm-founding wasps show similar shifts in foraging rates during the founding stage? We measured foraging rates of the swarm-founding wasp, Polybia occidentalis at four stages of colony development. At each stage, foraging rates correlated with the number of larvae present, which, in the founding stages, correlated with the number of cells in the new nest. Thus, foraging rates appear to be demand-driven, with the level of demand in the founding stage set by the size of nest that is constructed. During the founding stage, foraging rates per larva were high initially, suggesting that colonies minimize the development times of larvae early in the founding stage. Later in the stage, foraging rates decreased, which would reduce worker mortality until new workers eclose. This pattern is similar to that shown for independent-founding wasps and likely results from conflicting pressures to maximize colony growth and minimize the risk of colony death by forager attrition.     

Axi-symmetric simulation of soil vapor extraction influenced by soil fracturing

Fracturing, either pneumatic or hydraulic, is a method to improve the performance of soil vapor extraction (SVE) in relatively low permeability soils (< 10(-5) cm/s). A two-dimensional model is presented to simulate trichloroethylene (TCE) soil vapor extraction modified by fracturing. Flow and transport is modeled using mobile macropore and micropore networks, which also have been identified in the literature as dual porosity, dual permeability, or heterogeneous flow models. In this model, fluids can flow in both the macropore and micropore networks. This represents a more general model compared to immobile micropore, mobile macropore models presented thus far in the literature for vapor flow and transport in two dimensions. The model considers pressure- and concentration-driven exchange between the macropore and micropore networks, concentration-driven exchange between the gas and sorbed phases within each network, and equilibrium exchange between the gas and water and a sorbed phase within each network. The parameters employed in an example simulation are based on field measurements made at a fractured site. Considered in the simulations were the influence of the volume percentage of fractures, the length of fractures, the relative location of the water table, and the influence of pulsed pumping. For these simulations, internetwork concentration-driven exchange most significantly affected mass removal. The volume percentage of fractures more significantly influence flow and mass removal than the length of fractures. The depth of the water table below the contamination plume only significantly influenced flow and mass removal when the water table was within 60 cm of the bottom of the contaminated soil in the vadose zone for the parameters considered in this study. Pulsed pumping was not found to increase the amount of mass removed in this study.     

Sub-canopy deposition of ozone in a stand of cutleaf coneflower

Although there has been a great deal of research on ozone, interest in exposure of native, herbaceous species is relatively recent and it is still not clear what role the pollutant has in their ecological fitness. The ozone exposure of a plant is usually expressed in terms of the concentration above the canopy or as a time-weighted index. However, to understand the physiological effects of ozone it is necessary to quantify the ozone flux to individual leaves as they develop, which requires knowing the deposition velocity and concentration of the pollutant as a function of height throughout the plant canopy. We used a high-order closure model of sub-canopy turbulence to estimate ozone profiles in stands of cutleaf coneflower (Rudbeckia laciniata L.) located in the Great Smoky Mountains National Park, USA. The model was run for periods coinciding with a short field study, during which we measured vertical concentration profiles of ozone along with measurements of atmospheric turbulence and other meteorological and plant variables. Predictions of ozone profiles by the model are compared with observations throughout the canopy.