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.     

MODELING THE IMPACT OF MULTICOMPONENT VOCs ON GROUND WATER USING THE STEFAN‐MAXWELL EQUATION1

ABSTRACT: Computer programs that model the fate and transport of organic contaminants through porous media typically use Fick's first law to calculate vapor phase diffusion. Fick's first law, however, is limited to the case of a single, dilute species diffusing into a stagnant, high concentration, bulk vapor phase. When dealing with more than one diffusing species and at higher concentrations, the multicomponent coupling effects on vapor phase diffusion and advection of the various constituents become significant. VLEACH, a one‐dimensional finite difference model developed for the U.S. Environmental Protection Agency (USEPA), is typical of the models using Fick's first law to model vapor‐phase diffusion. The VLEACH model was modified to accommodate up to 10 components and to calculate the binary diffusion coefficients for each of the components based on molecular weight, molecular volume, temperature and pressure, and to address the coupling effects on multiple component vapor phase diffusion and its impact on ground water. The resulting model was renamed MC‐CHEMSOIL. At low vapor phase concentrations, MC‐CHEMSOIL predicts identical ground water impacts (dissolved phase loading) to those from VLEACH 2.2a. At higher vapor phase concentrations, however, the relative difference between the models exceeded 20 percent.     

The city as a refuge for insect pollinators

Research on urban insect pollinators is changing views on the biological value and ecological importance of cities. The abundance and diversity of native bee species in urban landscapes that are absent in nearby rural lands evidence the biological value and ecological importance of cities and have implications for biodiversity conservation. Lagging behind this revised image of the city are urban conservation programs that historically have invested in education and outreach rather than programs designed to achieve high‐priority species conservation results. We synthesized research on urban bee species diversity and abundance to determine how urban conservation could be repositioned to better align with new views on the ecological importance of urban landscapes. Due to insect pollinators’ relatively small functional requirements—habitat range, life cycle, and nesting behavior—relative to larger mammals, we argue that pollinators put high‐priority and high‐impact urban conservation within reach. In a rapidly urbanizing world, transforming how environmental managers view the city can improve citizen engagement and contribute to the development of more sustainable urbanization.     

Assessing effects of non-native crayfish on mosquito survival

Introductions of non-native predators often reduce biodiversity and affect natural predator–prey relationships and may increase the abundance of potential disease vectors (e.g., mosquitoes) indirectly through competition or predation cascades. The Santa Monica Mountains (California, U.S.A.), situated in a global biodiversity hotspot, is an area of conservation concern due to climate change, urbanization, and the introduction of non-native species. We examined the effect of non-native crayfish (Procambarus clarkii) on an existing native predator, dragonfly nymphs (Aeshna sp.), and their mosquito larvae (Anopheles sp.) prey. We used laboratory experiments to compare the predation efficiency of both predators, separately and together, and field data on counts of dragonfly nymphs and mosquito larvae sampled from 13 local streams. We predicted a lower predation efficiency of crayfish compared with native dragonfly nymphs and a reduced predation efficiency of dragonfly nymphs in the presence of crayfish. Dragonfly nymphs were an order of magnitude more efficient predators than crayfish, and dragonfly nymph predation efficiency was reduced in the presence of crayfish. Field count data showed that populations of dragonfly nymphs and mosquito larvae were strongly correlated with crayfish presence in streams, such that sites with crayfish tended to have fewer dragonfly nymphs and more mosquito larvae. Under natural conditions, it is likely that crayfish reduce the abundance of dragonfly nymphs and their predation efficiency and thereby, directly and indirectly, lead to higher mosquito populations and a loss of ecosystem services related to disease vector control.     

Influence of humic acid on the sorption of uranium(IV) to kaolin

Safety assessments for radioactive waste disposal require estimations of the migration of radionuclides in soils. The influence of humic acid (HA) on the sorption of uranium in its +4 oxidation state to kaolin has been examined from pH 4 to 8, with HA concentrations of 15–200 ppm. In the absence of HA, 20–40% of the U(IV) was in solution, with more sorption occurring at higher pH. The presence of HA solubilised up to 90% of the uranium with higher solubilities at higher HA concentrations and higher pH values. Uranium sorption was mapped against HA sorption, and it was found that there was a lower level of U(IV) sorption than can be accounted for by just measuring HA sorption. However, this effect got less marked as the pH rose. Sensitivity analysis indicated that the fraction of surface-bound HA is the controlling parameter for modelling in these systems.