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.     

EIA screening and nature protection in Denmark

The number of environmental impact assessment (EIA) screenings in Denmark has increased dramatically since 2000. This is a consequence of increased pig production as well as the concentration of production on larger farms. In the same period, EIA rules have developed primarily due to an increased focus on the protection of groundwater and Natura 2000 sites. In particular, the implementation of Natura 2000 in Danish legislation has increased the demands on many farms. In its rulings on appealed cases, the Nature Protection Board of Appeal has strengthened its demands, and this is mirrored in screening practices. In this paper, the demands formulated in the guidelines of local authorities were analysed in order to investigate how the protection of groundwater, coastal waters, lakes and Natura 2000 sites develops through EIA screening. It is concluded that the level of protection has improved, and that the main cause for this is not EIA regulations as such, but the positive role which the implementation of the Natura 2000 objectives has played in this development. However, it was also found that the formulation of demands varies greatly between the counties, thus often resulting in ambiguity and leaving room for quite different practices in different counties.     

Stormwater Runoff Characterized by GIS Determined Source Areas and Runoff Volumes

Runoff coefficients are usually considered in isolation for each drainage area with resulting large uncertainties in the areas and coefficients. Accurate areas and coefficients are obtained here by optimizing runoff coefficients for characteristic Geographic Information Systems (GIS) subareas within each drainage area so that the resulting runoff coefficients of each drainage area are consistent with those obtained from runoff and rainfall volumes. Lack of fit can indicate that the ArcGIS information is inaccurate or more likely, that the drainage area needs adjustment. Results for 18 drainage areas in Milwaukee, WI for 2000–2004 indicate runoff coefficients ranging from 0.123 for a mostly residential area to 0.679 for a freeway-related land, with a standard error of 0.047. Optimized runoff coefficients are necessary input parameters for monitoring, and for the analysis and design of in situ stormwater unit operations and processes for the control of both urban runoff quantity and quality.     

High temperature co-treatment of bottom ash and stabilized fly ashes from waste incineration

Bottom ashes from two Danish municipal solid waste incineration plants were heated at 900 degrees C with iron oxide stabilized air pollution control residues at actual mass flow ratios (9:1), simulating a treating method for the residues. The two residues were co-treated, producing one combined stream that may be utilized as a secondary road construction material. Scanning electron microscope analysis and grain size distribution analysis indicated that sintering of the particles did not occur. Batch leaching tests at liquid/solid 10 l/kg at a range of pH-values (6-10) quantified with respect to Cd, Cr and Pb revealed significant positive effects of co-heating the ashes, although Pb showed slightly increased leaching. At a liquid/solid ratio of 10 l/kg the leachate concentrations were still low at pH 7-10 and the release of Pb was, thus, not expected to limit the utilization of the mixed ashes. The process, thus, fixates the metals in the solid residues without altering the leaching properties of the bottom ash too significantly.     

Modeling changes in the coastal ecosystem of the Pearl River Estuary from 1981 to 1998

The coastal ecosystem of the Pearl River Estuary (PRE) has been overfished and received a high level of combined pollution since the 1980s. Ecopath with Ecosim was used to construct two ecosystem models (for 1981 and 1998) to characterize the food web structure and functioning of the ecosystem. Pedigree work and simple sensitivity analysis were carried out to evaluate the quality of data and the uncertainty of the models. The two models seem reliable with regards to input data of good quality. Comparing the variations of outputs of these two models aimed to facilitate assessment of changes of the ecosystem during the past two decades.The trophic structure of the ecosystem has changed with an increase in the biomass proportion of lower trophic level (TL) organisms and a decrease in top predator biomass proportion. All the indices of ecosystem maturity examined show that the system was in a more mature condition in 1981 than in 1998, although the system has been in a condition of stress due to anthropogenic disturbances, such as environmental pollution and habitat destruction since 1981. The ecosystem was aggregated into six and seven integral TLs in 1981 and 1998, respectively, using the trophic aggregation routine of Ecopath. Most of the total system biomass and catch took place at TL II and III in both years. But the distribution of the total system biomass and catch at different TLs changed with decreasing proportions in higher TLs in 1998. The mean transfer efficiency was 9.1% and 10.2% in 1981 and 1998, respectively.Comparative network analysis allowed quantification of the importance of direct and indirect trophic interactions among functional groups. Moreover, a method derived from the mixed trophic impact (MTI) analysis allowed estimating importance of groups in terms of “keystoneness” and identifying the keystone species in the two models over the past two decades. The results indicate that there were no clear keystone species in 1998 but two keystone species at medium trophic levels were identified in 1981. Moreover, organisms located at low trophic levels such as phytoplankton, zooplankton and benthic invertebrates were identified to have relatively high keystoneness in the ecosystem.     

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.