Influence of pH,EDTA/Fe(II) ratio,and microbial culture on Fe(II)-mediated autotrophic denitrification

Environmental Science and Pollution Research - Fe(II)-mediated autotrophic denitrification with four different microbial cultures under different pH and EDTA/Fe(II) conditions was investigated in...     

Investigation of different ethylenediamine-N,N′-disuccinic acid-enhanced washing configurations for remediation of a Cu-contaminated soil: process kinetics and efficiency comparison between single-stage and multi-stage configurations

Environmental Science and Pollution Research - A comparison of Cu extraction yields for three different ethylenediamine-N,N′-disuccinic acid (EDDS)-enhanced washing configurations was...     

On the uncertainty and confidence in decision support tools (DSTs) with insights from the Baltic Sea ecosystem

Ecosystems around the world are increasingly exposed to multiple, often interacting human activities, leading to pressures and possibly environmental state changes. Decision support tools (DSTs) can assist environmental managers and policy makers to evaluate the current status of ecosystems (i.e. assessment tools) and the consequences of alternative policies or management scenarios (i.e. planning tools) to make the best possible decision based on prevailing knowledge and uncertainties. However, to be confident in DST outcomes it is imperative that known sources of uncertainty such as sampling and measurement error, model structure, and parameter use are quantified, documented, and addressed throughout the DST set-up, calibration, and validation processes. Here we provide a brief overview of the main sources of uncertainty and methods currently available to quantify uncertainty in DST input and output. We then review 42 existing DSTs that were designed to manage anthropogenic pressures in the Baltic Sea to summarise how and what sources of uncertainties were addressed within planning and assessment tools. Based on our findings, we recommend future DST development to adhere to good modelling practise principles, and to better document and communicate uncertainty among stakeholders.Electronic supplementary materialThe online version of this article (doi:10.1007/s13280-020-01385-x) contains supplementary material, which is available to authorized users.     

Current practice of first-trimester ultrasound screening for structural fetal anomalies in developed countries

Objectives

First-trimester ultrasound screening is increasingly performed to detect fetal anomalies early in pregnancy, aiming to enhance reproductive autonomy for future parents. This study aims to display the current practice of first-trimester ultrasound screening in developed countries.

Method

An online survey among 47 prenatal screening experts in developed countries.

Results

First-trimester structural anomaly screening is available in 30 of the 33 countries and is mostly offered to all women with generally high uptakes. National protocols are available in 23/30 (76.7%) countries, but the extent of anatomy assessment varies. Monitoring of scan quality occurs in 43.3% of the countries. 23/43 (53.5%) of the respondents considered the quality of first-trimester ultrasound screening unequal in different regions of their country.

Conclusions

First-trimester screening for structural fetal anomalies is widely offered in developed countries, but large differences are reported in availability and use of screening protocols, the extent of anatomy assessment, training and experience of sonographers and quality monitoring systems. Consequently, this results in an unequal offer to parents in developed countries, sometimes even within the same country. Furthermore, as offer and execution differ widely, this has to be taken into account when results of screening policies are scientifically published or compared.     

All-in-one whole exome sequencing strategy with simultaneous copy number variant,single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience

Objective

We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result.

Methods

After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV). On request, additional SNV-analysis, restricted to (the) requested gene panel(s) only (with the option of whole exome SNV-analysis afterward) was performed simultaneously (WES-CNV/SNV) or as rapid SNV-re-analysis, following a normal CNV analysis.

Results

In total, 415 prenatal samples were included. Following a non-causative QF-PCR result, WES-CNV analysis was initially requested for 74.3% of the chorionic villus (CV) samples and 45% of the amniotic fluid (AF) samples. In case WES-CNV analysis did not reveal a causative aberration, SNV-re-analysis was requested in 41.7% of the CV samples and 17.5% of the AF samples. All initial analyses could be finished within 2 weeks after sampling. For SNV-re-analysis during pregnancy, turn-around-times (TATs) varied between one and 8 days.

Conclusion

We show a highly efficient all-in-one WES-based strategy, with short TATs, and the option of rapid SNV-re-analysis after a normal CNV result.     

Birthweight of children with isolated congenital heart disease—A sibling analysis study

Objective

Congenital heart disease (CHD) is associated with decreased birthweight (BW) compared to population-based references. The aim of this study was to compare the BW of isolated CHD cases to their siblings, thus controlling for unknown and unmeasured confounders within the family.

Methods

All isolated CHD cases in the Leiden University Medical Center were included (2002–2019). Generalized estimated equation models were constructed to compare BW z scores of CHD neonates with their siblings. Cases were clustered to minor or severe CHD and stratified according to the aortic flow and oxygenation to the brain.

Results

The overall BW z score of siblings was 0.032 (n = 471). The BW z score was significantly lower in CHD cases (n = 291) compared to their siblings (−0.20, p = 0.005). The results were consistent in the subgroup analysis of severe and minor CHD (BW z score difference −0.20 and −0.10), but did not differ significantly (p = 0.63). Stratified analysis regarding flow and oxygenation showed no BW difference between the groups (p = 0.1).

Conclusion

Isolated CHD cases display a significantly lower BW z score compared to their siblings. As the siblings of these CHD cases show a BW distribution similar to the general population, this suggests that shared environmental and maternal influences between siblings do not explain the difference in BW.