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.     

Is there a Relation Between Ecological Practices and Spirituality? The Case of Benedictine Monasteries

For decades there has been a controversial debate over how far religious faith communities are specifically engaged in ecological practices (EP). Therefore we studied four Austrian and two German Benedictine monasteries religious ethics and spirituality as a means of a driving force for initiating EP. We draw upon theories of organizational learning processes and capacity-building of sustainability to interpret our empirical findings. The majority of monasteries are highly engaged in EP, initiated either as an outcome of individual activities or through a specific mostly informally acting group, but rarely an organizationally or systematically integrated goal of the monasteries, or a focus of capacity building. Monasteries follow a technical and economic decision-making process in implementing EP. Spirituality plays a limited role in the initiation of EP. The environment of monasteries–acceptance or critique against ecological practices–influences the monasteries decisions. Institutionalization of ecological practices into the monasteries organizational structure is rare.     

Eulerian and lagrangian transport time scales of a tidal active coastal basin

In this work the flushing features of a tidal active coastal basin, the Venice lagoon, have been investigated. The water transport time scale (TTS) has been computed by means of both an eulerian and a lagrangian approach. The obtained results have been compared in order to identify the main differences between the two methods.     

A performance-based tabular approach for joint systematic improvement of risk control and resilience applied to telecommunication grid,gas network,and ultrasound localization system

Environment Systems and Decisions - Organizational and technical approaches have proven successful in increasing the performance and preventing risks at socio-technical systems at all scales....     

New beach in a shallow estuarine lagoon: a model-based <Emphasis Type="Italic">E. coli</Emphasis> pollution risk assessment

A 3D hydrodynamic model has been applied to the Curonian Lagoon to study the pollution impact of E. coli on a new beach that might be opened in the lagoon. Through a field survey the E. coli inputs were measured and then used in the numerical model, and through laboratory experiments the decay rate of E. coli was established. The model has been calibrated and validated for the year 2015, and several scenarios have been studied, such as sewage system breakdown, severe weather conditions or high river loads. The model has then been run for a period of 12 years to obtain a robust statistics for the pollution on the planned beach. Results show that the decay rate of E. coli is between 0.55 days and 2.3 days and the modeled decay times are compatible with these numbers. The only scenario that would create a risk for the bathing waters of the beach is a breakdown of the sewage system on the Curonian Spit. In this case the hours (and days) over legally allowable bathing threshold were computed in order to estimate the number of days the beach could be closed. These results have been confirmed by the 12 year simulations. With an influence map analysis the two most critical sewage systems could be identified.     

Brood temperature, task division and colony survival in honeybees: A model

One of the mechanisms by which honeybees regulate division of labour among their colony members is age polyethism. Here the younger bees perform in-hive tasks such as heating and the older ones carry out tasks outside the hive such as foraging. Recently it has been shown that the higher developmental temperatures of the brood, which occur in the centre of the brood nest, reduce the age at which individuals start to forage once they are adult. It is unknown whether this effect has an impact on the survival of the colony. The aim of this paper is to study the consequences of the temperature gradient on the colony survival in a model on the basis of empirical data.We created a deterministic simulation of a honeybee colony (Apis mellifera) which we tuned to our empirical data. In the model in-hive bees regulate the temperature of the brood nest by their heating activities. These temperatures determine the age of first foraging in the newly emerging bees and thus the number of in-hive bees present in the colony. The results of the model show that variation in the onset of foraging due to the different developmental temperatures has little impact on the population dynamics and on the absolute number of bees heating the nest unless we increase this effect by several times to unrealistic values, where individuals start foraging up to 10 days earlier or later. Rather than on variation in the onset of foraging due to the temperature gradient it appears that the survival of the colony depends on a minimal number of bees available for heating at the beginning of the simulation.     

Determinants of brominated flame retardants in breast milk from a large scale Norwegian study

Brominated flame retardants (BFRs), particularly polybrominated diphenyl ethers (PBDEs), are widely present in human populations. In order to investigate human exposure pathways and associations with socioeconomic and lifestyle factors, 393 breast milk samples from mothers living in various regions throughout Norway were analyzed. Up to ten PBDE congeners were measured in all the samples, hexabromocyclododecane (HBCD) and BDE-209 in subsets of 310 and 46, respectively. The median concentrations of the sum of the seven most prominent PBDEs (BDE-28, 47, 99, 100, 153, 154 and 183), BDE-209 and HBCD were 2.1, 0.32 and 0.86 ng/g lipids, respectively. These concentrations are comparable to the levels generally observed in human populations in Europe. The frequency distributions were quite skewed with long tails towards higher concentrations. Maternal age, parity, education, having a cohabitant employed as electrician, and ventilation were factors significantly associated with some of the BFRs, although these factors only explained a small amount of the variability (R² 0.04–0.16). The mothers' diet was not found to influence the breast milk PBDE and HBCD levels. Our results show that sources other than the diet are important for the variability seen in breast milk BFR concentrations and that exposure from the indoor atmosphere should be emphasized in future studies.