How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark

Objectives

We aimed to compare cell-based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell-free NIPT (cfNIPT).

Material and Methods

Study 1: Women (N = 92) who accepted CVS were recruited for cbNIPT (53 normal and 39 abnormal). Samples were analyzed with chromosomal microarray (CMA). Study 2: Women (N = 282) who accepted cfNIPT were recruited for cbNIPT. cfNIPT was analyzed using sequencing and cbNIPT by CMA.

Results

Study 1: cbNIPT detected all aberrations (32/32) found in CVS: trisomies 13, 18 and 21 (23/23), pathogenic copy number variations (CNVs) (6/6) and sex chromosome aberrations (3/3). cbNIPT detected 3/8 cases of mosaicism in the placenta. Study 2: cbNIPT detected all trisomies found with cfNIPT (6/6) and had no false positive (0/246). One of the three CNVs called by cbNIPT was confirmed by CVS but was undetected by cfNIPT, two were false positives. cbNIPT detected mosaicism in five samples, of which two were not detected by cfNIPT. cbNIPT failed in 7.8% compared to 2.8% in cfNIPT.

Conclusion

Circulating trophoblasts in the maternal circulation provide the potential of screening for aneuploidies and pathogenic CNVs covering the entire fetal genome.     

Home composting as an alternative treatment option for organic household waste in Denmark: An environmental assessment using life cycle assessment-modelling

An environmental assessment of the management of organic household waste (OHW) was performed from a life cycle perspective by means of the waste-life cycle assessment (LCA) model EASEWASTE. The focus was on home composting of OHW in Denmark and six different home composting units (with different input and different mixing frequencies) were modelled. In addition, incineration and landfilling was modelled as alternatives to home composting. The most important processes contributing to the environmental impact of home composting were identified as greenhouse gas (GHG) emissions (load) and the avoided emissions in relation to the substitution of fertiliser and peat when compost was used in hobby gardening (saving). The replacement of fertiliser and peat was also identified as one of the most sensible parameters, which could potentially have a significant environmental benefit. Many of the impact categories (especially human toxicity via water (HTw) and soil (HTs)) were affected by the heavy metal contents of the incoming OHW. The concentrations of heavy metals in the compost were below the threshold values for compost used on land and were thus not considered to constitute a problem. The GHG emissions were, on the other hand, dependent on the management of the composting units. The frequently mixed composting units had the highest GHG emissions. The environmental profiles of the home composting scenarios were in the order of −2 to 16 milli person equivalents (mPE) Mg⁻¹ wet waste (ww) for the non-toxic categories and −0.9 to 28 mPE Mg⁻¹ ww for the toxic categories. Home composting performed better than or as good as incineration and landfilling in several of the potential impact categories. One exception was the global warming (GW) category, in which incineration performed better due to the substitution of heat and electricity based on fossil fuels.     

Quantifying uncertainty in LCA-modelling of waste management systems

Uncertainty analysis in LCA studies has been subject to major progress over the last years. In the context of waste management, various methods have been implemented but a systematic method for uncertainty analysis of waste-LCA studies is lacking. The objective of this paper is (1) to present the sources of uncertainty specifically inherent to waste-LCA studies, (2) to select and apply several methods for uncertainty analysis and (3) to develop a general framework for quantitative uncertainty assessment of LCA of waste management systems. The suggested method is a sequence of four steps combining the selected methods: (Step 1) a sensitivity analysis evaluating the sensitivities of the results with respect to the input uncertainties, (Step 2) an uncertainty propagation providing appropriate tools for representing uncertainties and calculating the overall uncertainty of the model results, (Step 3) an uncertainty contribution analysis quantifying the contribution of each parameter uncertainty to the final uncertainty and (Step 4) as a new approach, a combined sensitivity analysis providing a visualisation of the shift in the ranking of different options due to variations of selected key parameters. This tiered approach optimises the resources available to LCA practitioners by only propagating the most influential uncertainties.     

A possible prenatal evaluation of renal function by amino acid analysis on fetal urine

Intrauterine treatment of 4 fetuses with urethral obstruction was attempted in the third trimester of pregnancy. The fetuses displayed varying sonographic findings including pyelectasis, caliectasis, hydroureter, bladder dilatation, ascites, hydrops, missing kidneys and oligohydramnios. Ultrasonically guided aspiration from the dilated structures was carried out to relieve pressure on the kidney parenchyme and to collect fluid samples for diagnostic purposes. Amino acid concentrations in the fetal urine showed a pattern similar to plasma in 2 fetuses, a pattern almost like urine in 1 fetus and an intermediate pattern in the 4th fetus. Only the fetus with normal amino acid concentrations in the urine survived: the other 3 died in uremia shortly after birth. In 3 cases cells from the aspirated urine were cultured and used for chromosome analysis. The cell cultures grew fast and karyotyping was possible within 1 week. In 2 fetuses an intrauterine catheter was inserted to drain the kidney permanently into the amniotic cavity. In the first case the catheter was displaced to the fetal abdomen after some days of successful drainage. In the second case the catheter tore the placenta, and the child had to be delivered immediately.     

RATIONAL PROTECTION OF WATER RESOURCES IN COASTAL ZONES THROUGH PLANNED DEVELOPMENT1

ABSTRACT: A significant water-resources problem in Florida and other coastal states where the ground-water resources are threatened by salt-water intrusion or direct pollution from septic tanks, canals or marinas, is the almost explosive urban development of the limited coastal zone without or with only little water related planning. The reported study deals with the establishment of methods for identification of areas which are suitable for development and of areas where complete preservation or controlled and limited development should be encouraged. A methodology using data input available from such federal and state agencies as the USGS, the U. S. Weather Bureau, and the various State Geological Surveys is developed and brought on a graphic form that will guide the planning process and allow the urban planner even without a background in geohydrology or water-resources engineering to identify the problem areas.     

Environmental assessment of solid waste systems and technologies: EASEWASTE.

A new model has been developed for evaluating the overall resource consumption and environmental impacts of municipal solid waste management systems by the use of life cycle assessment. The model is named EASEWASTE (Environmental Assessment of Solid Waste Systems and Technologies) and is able to compare different waste management strategies, waste treatment methods and waste process technologies. The potential environmental impacts can be traced back to the most important processes and waste fractions that contribute to the relevant impacts. A model like EASEWASTE can be used by waste planners to optimize current waste management systems with respect to environmental achievements and by authorities to set guidelines and regulations and to evaluate different strategies for handling of waste. The waste hierarchy has for decades been governing waste management but the ranking of handling approaches may not always be the most environmentally friendly. The EASEWASTE model can identify the most environmentally sustainable solution, which may differ among waste materials and regions and can add valuable information about environmental achievements from each process in a solid waste management system.     

Method for determination of methane potentials of solid organic waste

A laboratory procedure is described for measuring methane potentials of organic solid waste. Triplicate reactors with 10 grams of volatile solids were incubated at 55 degrees C with 400 ml of inoculum from a thermophilic biogas plant and the methane production was followed over a 50-day period by regular measurements of methane on a gas chromatograph. The procedure involves blanks as well as cellulose controls. Methane potentials have been measured for source-separated organic household waste and for individual waste materials. The procedure has been evaluated regarding practicality, workload, detection limit, repeatability and reproducibility as well as quality control procedures. For the source-separated organic household waste a methane potential of 495 ml CH4/g VS was found. For fat and oil a lag-phase of several days was seen. The protein sample was clearly inhibited and the maximal methane potential was therefore not achieved. For paper bags, starch and glucose 63, 84 and 94% of the theoretical methane potential was achieved respectively. A detection limit of 72.5 ml CH4/g VS was calculated from the results. This is acceptable, since the methane potential of the tested waste materials was in the range of 200-500 ml CH4/g VS. The determination of methane potentials is a biological method subject to relatively large variation due to the use of non-standardized inoculum and waste heterogeneity. Therefore, procedures for addressing repeatability and reproducibility are suggested.     

METHOD TO IDENTIFY EFFECTWE RIPARIAN BUFFER WIDTHS FOR ATLANTIC SALMON HABITAT PROTECTION1

ABSTRACT: Successful restoration of declining anadromous species is dependent upon effective riparian buffer zone management. Natural resource managers, policy developers and local conservation groups require science‐based information concerning the width at which a given buffer will be effective for its stated purpose. This paper summarizes a method developed in 1999 to determine effective riparian buffer widths for Atlantic salmon habitat protection as part of the Atlantic Salmon Conservation Plan for Seven Maine Rivers. A major assumption of the method is that no two buffers are alike with respect to their effectiveness and that various buffer characteristics dictate the required width for a given level of effectiveness. The method uses a predictive model that generates suggested riparian buffer widths as a function of specific, measurable buffer characteristics (such as slope, soil characteristics, and plant community structure and density) that affect buffer function. The method utilizes a variable‐width, two‐zone approach and specifies land uses that are consistent with desired buffer function within the two zones.