Prenatal diagnosis and outcomes of five cases of mosaicism for an isochromosome of 20q

Five cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha-fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change.     

MSAFP levels and oesophageal atresia

This study was undertaken to evaluate the relationship between maternal serum alpha-fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median (MOM) value for MSAFP averaged 1·54 ± 0·65 (range 0·5–2·9 MOM), which was significantly higher than the value seen in controls. The median MOM was 1·35. Using a cut-off of 2·5 MOM, the sensitivity of MSAFP for detecting OA was 19 per cent. Although OA should be considered in the differential diagnosis of an elevated MSAFP level, MSAFP cannot be considered an appropriate screening test for OA given the low sensitivity.     

Determinants of parental decisions to abort for chromosome abnormalities

Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the‘severe’ or the‘questionable’ group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p <0·0001). The association of ultrasound anomalies and termination was highly significant (p< 0·001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.     

Individual consistency in exploratory behaviour and mating tactics in male guppies

While behavioural plasticity is considered an adaptation to fluctuating social and environmental conditions, many animals also display a high level of individual consistency in their behaviour over time or across contexts (generally termed ‘personality’). However, studies of animal personalities that include sexual behaviour, or functionally distinct but correlated traits, are relatively scarce. In this study, we tested for individual behavioural consistency in courtship and exploratory behaviour in male guppies (Poecilia reticulata) in two light environments (high vs. low light intensity). Based on previous work on guppies, we predicted that males would modify their behaviour from sneak mating tactics to courtship displays under low light conditions, but also that the rank orders of courtship effort would remain unchanged (i.e. highly sexually active individuals would display relatively high levels of courtship under both light regimes). We also tested for correlations between courtship and exploratory behaviour, predicting that males that had high display rates would also be more likely to approach a novel object. Although males showed significant consistency in their exploratory and mating behaviour over time (1 week), we found no evidence that these traits constituted a behavioural syndrome. Furthermore, in contrast to previous work, we found no overall effect of the light environment on any of the behaviours measured, although males responded to the treatment on an individual-level basis, as reflected by a significant individual-by-environment interaction. The future challenge is to investigate how individual consistency across different environmental contexts relates to male reproductive success.     

Queen longevity,queen adoption,and posthumous indirect fitness in the facultatively polygynous ant Myrmica tahoensis

In many polygynous ant species, established colonies adopt new queens secondarily. Conflicts over queen adoption might arise between queens and workers of established colonies and the newly mated females seeking adoption into nests. Colony members are predicted to base adoption decisions on their relatednesses to other participants, on competition between queens for colony resources, and on the effects that adopted queens have on colony survivorship and productivity. To provide a better understanding of queen-adoption dynamics in a facultatively polygynous ant, colonies of Myrmica tahoensis were observed in the field for 4 consecutive years and analyzed genetically using highly polymorphic microsatellite DNA markers. The extreme rarity of newly founded colonies suggests that most newly mated queens that succeed do so by entering established nests. Queens are closely related on average (rˉ = 0.58), although a sizable minority of queen pairs (29%) are not close relatives. An experiment involving transfers of queens among nests showed that queens are often accepted by workers to which they are completely unrelated. Average queen numbers estimated from nest excavations (harmonic mean = 1.4) are broadly similar to effective queen numbers inferred from the genetic relatedness of colony members, suggesting that reproductive skew is low in this species. Queens appear to have reproductive lifespans of only 1 or 2 years. As a result, queens transmit a substantial fraction of their genes posthumously (through the reproduction of related nestmates), in comparison to direct and indirect reproduction while they are alive. Thus queens and other colony members should often accept new queens when doing so will increase colony survivorship, in some cases even when the adopted queens are not close relatives. Received: 20 February 1996/Accepted after revision: 25 May 1996     

Modelling the impacts of strategic tree plantings on salt loads and flows in the Macquarie river catchment,NSW, Australia

In Australia, problems of dryland and stream salinity have recently become the focus of a National Action Plan. In many river catchments, preliminary stream salt load and salinity targets have been set to define maximum permissible export levels in 2015. Afforestation has been proposed as a strategy for meeting these targets, although several studies suggest that widespread commercial tree plantations are likely to deliver net dis-benefits. However, the impacts on stream salt loads of more localised tree plantings in high salt yielding areas have not been quantified. In this paper we use a simple empirical model to predict the effects of various strategic and non-strategic tree planting scenarios on flows and salt loads in the mid-Macquarie catchment, New South Wales. A simple salt routing model is then used to estimate the effect of these changes on salt loads at the end-of-valley monitoring site for the Macquarie catchment. Results suggest that widespread land management interventions will be required to meet the preliminary salt load targets for this catchment. On their own, small-scale, strategic tree planting in high salt export areas of the mid-Macquarie area will not have a significant impact on salt loads at the end-of-valley monitoring site. While widespread tree plantings may reduce salt loads in the longer term, they are likely to cause streamflow losses in the shorter term. Thus, stream salinities are expected to rise initially, due to the different response times of groundwater and surface water systems to land use change.     

Natural uranium and thorium distributions in podzolized soils and native blueberry

Plant uptake of radionuclides is one of many vectors for introduction of contaminants into the human food chain. Thus, it is critical to understand soil-plant relationships that control nuclide bioavailability. Our objectives in this study were to (i) determine the extent of U and Th uptake and cycling by blueberry (Vaccinium pallidum Aiton) in native habitat and (ii) identify the soil properties and processes that contribute most to U and Th bioavailability in this system. We collected composite samples of plant leaves and stems, and samples from surface (AE) horizons and from the upper part of the Bs horizon at two sites. Concentration ratios (CRs) for U and Th were calculated for all plant tissues, using both the AE and Bs horizons as the base. Soil concentrations of U ranged from 16 to 25 microg g(-1), with a mean of 21.1 microg g(-1). Soil concentrations of Th ranged from 14 to 97 microg g(-1), with a mean of 41.8 microg g(-1). Mean U concentrations were 8.65 x 10(-3) microg g(-1) in leaf tissue, and 7.95 x 10(-3) microg g(-1) in stem tissue. Mean Th concentrations were 1.59 x 10(-1) microg g(-1) in leaf tissue, and 9.10 x 10(-2) microg g(-1) in stem tissue. Blueberry plants are cycling both U and Th in this system, with Th cycling occurring to a greater extent than U. In addition, Th was translocated preferentially to plant leaves while U concentrations showed little preferential translocation. Uranium uptake, however, seemed more sensitive than Th uptake to soil properties.     

Use of pyrolysis molecular beam mass spectrometry (py-MBMS) to characterize forest soil carbon: method and preliminary results

The components of soil organic matter (SOM) and their degradation dynamics in forest soils are difficult to study and thus poorly understood, due to time-consuming sample collection, preparation, and difficulty of analyzing and identifying major components. As a result, changes in soil organic matter chemical composition as a function of age, forest type, or disturbance have not been examined. We applied pyrolysis molecular beam mass spectrometry (py-MBMS), which provides rapid characterization of SOM of whole soil samples. to the Tionesta soil samples described by Hoover, C.M., Magrini, K.A., Evans, R.J., 2002. Soil carbon content and character in an old growth forest in northwestern Pennsylvania: a case study introducing molecular beam mass spectrometry (PY-MBMS). Environmental Pollution 116 (Supp. 1), S269-S278. Our goals in this work were to: (1) develop and demonstrate an advanced, rapid analytical method for characterizing SOM components in whole soils, and (2) provide data-based models to predict soil carbon content and residence time from py-MBMS analysis. Using py-MBMS and pattern recognition techniques we were able to statistically distinguish among four Tionesta sites and show an increase in pyrolysis products of more highly decomposed plant materials at increasing sample depth. For example, all four sites showed increasing amounts of older carbon (phenolic and aromatic species) at deeper depths and higher amounts of more recent carbon (carbohydrates and lignin products) at shallower depths. These results indicate that this type of analysis could be used to rapidly characterize SOM for the purpose of developing a model, which could be used in monitoring the effect of forest management practices on carbon uptake and storage.     

Summary of regulatory/policy/economic issues related to nitrogen

This is a summary of the two presentations from the session that dealt with the regulatory, policy and economic issues related to nitrogen compounds and the need to reduce their emissions. The papers were presented by Ronald Evans and Jan Willem Erisman. Information on ecological impacts of nitrogen species and atmospheric relationships are presented in other papers in this special issue. This summary provides an overview of the discussions from the above presentations.