Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells in one flask, another 20–40 cells must be examined from one or two additional flasks. Chromosome mosaicism is diagnosed only when an identical abnormality is detected in cells from two or more flasks. In a recent PDL series of 12 000 cases studied according to this protocol, we diagnosed 801 cases (6.68 per cent) of single-cell pseudomosaicism (SCPM), 126 cases (1.05 per cent) of multiple-cell pseudomosaicism (MCPM), and 24 cases (0.2 per cent) of true mosaicism. Pseudomosaicism (PM) involving a structural abnormality was a frequent finding (2/3 of SCPM and 3/5 of MCPM), with an unbalanced structural abnormality in 55 per cent of SCPM and 24 per cent of MCPM. We also reviewed all true mosaic cases (a total of 50) diagnosed in the first 22000 PDL cases. Of these 50 cases, 23 were sex chromosome mosaics and 27 had autosomal mosaicism; 48 cases had numerical abnormalities and two had structural abnormalities. Twenty-five cases of mosaicism were diagnosed in the first 20 cells from two flasks, i.e., without additional work-up, whereas the other 25 cases required extensive work-up to establish a diagnosis (12 needed additional cell counts from the initial two culture flasks; 13 required harvesting a third flask for cell analysis). Our data plus review of other available data led us to conclude that rigorous efforts to diagnose true mosaicism have little impact in many instances, and therefore are not cost-effective. On the basis of all available data, a work-up for potential mosaicism involving a sex chromosome aneuploidy or structural abnormality should have less priority than a work-up for a common viable autosomal trisomy. We recommend revised guidelines for dealing with (1) a numerical versus a structural abnormality and (2) an autosomal versus a sex chromosome numerical aneuploidy. Emphasis should be placed on autosomes known to be associated with phenotypic abnormalities. These new guidelines, which cover both flask and in situ methods, should result in more effective prenatal cytogenetic diagnosis and reduced patient anxiety.     

Preliminary Measurements of Turbulence and Environmental Parameters in a Sub-Tropical Estuary of Eastern Australia

In natural systems, mixing is driven by turbulence, but current knowledge is limited in estuarine zones where predictions of contaminant dispersion are often inaccurate. A series of detailed field studies was conducted in a small sub-tropical creek in eastern Australia. Hydrodynamic, physio-chemical and ecological measurements were conducted simultaneously to assess the complexity of the estuarine zone, notably the interactions between turbulence and environment. The measurements were typically performed at high frequency over a tidal cycle. The results provide an original data set to complement long-term monitoring and a basis for a more detailed study of mixing in sub-tropical systems. Unlike many long-term observations, velocity and water quality scalars were measured herein with sufficient spatial and temporal resolutions to determine quantities of interest in the study of turbulence, while ecological indicators were sampled systematically and simultaneously. In particular the results yielded contrasted outcomes, and the finding impacts on the selection process for key water quality indicators.     

Improving fetal congenital heart disease screening using a checklist-based approach

To determine if using a checklist of specific ultrasound image criteria to screen the fetal heart improves the cardiac exam completion rate, defined as the ability to classify the heart as normal or abnormal. This is a retrospective cohort study of patients with singleton pregnancies who underwent a fetal anatomy survey between 18 and 28 weeks' gestation. A checklist was used from 1 September 2015 to 31 March 2016 to categorize exams as complete-normal, complete-abnormal, or incomplete. Performance was compared with a 7-month period prior to checklist introduction (1 December 2014 to 30 June 2015). Checklist utilization improved the cardiac exam completion rate by 8.9%. With the checklist, 1083 of 1202 exams (90.1%) were completed compared to 987 of 1193 (82.7%) pre-checklist, P < .001. We did not detect a change in cases classified as abnormal and referred for echocardiography: 25 (2.1%) with the checklist and 16 (1.3%) pre-checklist, P = .16. We did not detect more congenital heart disease (CHD), 12 (1.0%) with checklist screening, 5 (0.4%) pre-checklist, P = .14. Critical CHD was not missed in either group. Using the checklist improved the cardiac exam completion rate. There was no change in congenital heart disease detection.     

THE ECONOMIC VALUE OF GROUND WATER RECHARGE FOR IRRIGATION USE1

ABSTRACT: Artificial recharge as a means of augmenting water sup plies for irrigation is a management alternative which policy makers in ground water decline areas are beginning to consider seriously. A conceptual model is developed to evaluate the economic benefits from ground water recharge under conditions where the major water use is irrigation. The methodology presented separates recharge benefits into two components: pumping cost savings and aquifer extension benefits. This model is then applied to a Nebraska case to approximate the value of recharge benefits as a function of aquifer response. discount rate, and commodity prices. It was found that recharge benefits vary from less than $2 to over $6 an acre foot recharged.     

Development of a Quality-Assessed Agrichemical Database For Monitoring Anthropogenic Impacts on Ground-Water Quality

The Quality–Assessed Agrichemical Contaminant Database for Nebraska Ground Water is a unique repository of nitrate and pesticide data collected by federal, state, and local agencies. Each contaminant concentration in the database has been evaluated based upon well–defined criteria that address completeness of the well–attribute data, analytical method and field and laboratory quality control practices and assigned to one of five quality levels. The quality assessment level always accompanies the contaminant concentration so that the end–user knows the quality assurance effort expended in the acquisition of the data, can select comparable data, and choose data whose quality assurance effort is commensurate with project objectives. The database can be viewed and queried on–line; downloaded in its entirety; or imported to a spreadsheet or a geographic information system. Setting criteria for data quality and assessing the level of quality have resulted in significant increases in the percentages of high quality (Levels 3–5) nitrate and pesticide data. These high quality data presently constitute 52% of the nitrate and 55% of the pesticide data.     

Individual differences and within-flock convergence in chickadee calls

Summary A detailed sound analysis of the Chick-adee call of the black-capped chickadee (Parus atricapillus) was performed in order to determine a basis for individual recognition and for imitation within winter flocks. During the winter of 1978–1979 members of five free-living black-capped chickadee flocks were uniquely marked for individual identification, and their calls were recorded in the field. Nested analysis of variance of temporal call parameters measured from sonagrams and spectral parameters from frequency spectra showed that there were significant differences between individuals within flocks for every parameter measured. There were significant differences between flocks in the frequency ranges 800–2,200 Hz and 4,000–5,300 Hz, in the spectral parameters bandwidth and maximum frequency, and in the duration of the Dee syllable and total call duration.Members of four of the five flocks were captured in December 1978 and held in aviaries segregated by original flock membership. In January 1979 the memberships of the three aviaries were rearranged to form experimental flocks. After one month, there were significant differences among the experimental flocks in the duration of the Dee syllable and total call duration. Convergence, as indicated by a significant decrease in variance among members (F-test), occurred in the experimental flock in Aviary 1 and was concentrated in the frequency ranges 1,300–1,800 and 6,200–6,900 Hz. The members of this experimental flock differed from each other in the number of 100 Hz frequency intervals within which each changed its own call.The Chick-a-dee call contains sufficient information that it can potentially be used by black-capped chickadees for individual recognition. In addition, both field and aviary data suggest that flock members converge in some call characteristics. Possible explanations of the social significance of vocal convergence in chickadee flocks are discussed.     

Ecological Engineering Practices for the Reduction of Excess Nitrogen in Human-Influenced Landscapes: A Guide for Watershed Managers

Excess nitrogen (N) in freshwater systems, estuaries, and coastal areas has well-documented deleterious effects on ecosystems. Ecological engineering practices (EEPs) may be effective at decreasing nonpoint source N leaching to surface and groundwater. However, few studies have synthesized current knowledge about the functioning principles, performance, and cost of common EEPs used to mitigate N pollution at the watershed scale. Our review describes seven EEPs known to decrease N to help watershed managers select the most effective techniques from among the following approaches: advanced-treatment septic systems, low-impact development (LID) structures, permeable reactive barriers, treatment wetlands, riparian buffers, artificial lakes and reservoirs, and stream restoration. Our results show a broad range of N-removal effectiveness but suggest that all techniques could be optimized for N removal by promoting and sustaining conditions conducive to biological transformations (e.g., denitrification). Generally, N-removal efficiency is particularly affected by hydraulic residence time, organic carbon availability, and establishment of anaerobic conditions. There remains a critical need for systematic empirical studies documenting N-removal efficiency among EEPs and potential environmental and economic tradeoffs associated with the widespread use of these techniques. Under current trajectories of N inputs, land use, and climate change, ecological engineering alone may be insufficient to manage N in many watersheds, suggesting that N-pollution source prevention remains a critical need. Improved understanding of N-removal effectiveness and modeling efforts will be critical in building decision support tools to help guide the selection and application of best EEPs for N management.