First-trimester free beta (hCG) screening for Down syndrome

Maternal serum free beta (hCG) levels are elevated (median 2·20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta analyte are observed in pregnancy conditions or complications other than Down syndrome.     

Serum PAPP-A measurements in first-trimester screening for Down syndrome

Serum PAPP-A measurements taken from 254 women in the first trimester are reported. Eleven chromosomal abnormalities were detected. The mean serum PAPP-A levels in cases of Down syndrome were 0.44 MOM at 9 weeks gestation, 0.15 MOM at 10 weeks, and 0.29 MOM at 11 weeks. The PAPP-A level at 10 weeks was below those of pregnancies which aborted spontaneously. At 11 weeks, the pregnancies with Down syndrome recorded the lowest PAPP-A levels at that gestation. On this small sample, offering chorionic villus sampling to women with singleton pregnancies and a PAPP-A level below 0.3 MOM (approximately 6.5 per cent of this at-risk group) would have detected all the Down syndrome fetuses at 10 weeks and 50 per cent at 11 weeks without selecting those cases destined to abort. This suggests that serum PAPP-A should continue to be investigated as a potential first-trimester screening test for Down syndrome.     

Urban heat indicator map for climate adaptation planning

By 2050, 75 % of the world’s population will live in cities and the occurrence of heat wave events might have doubled. Mapping the climate and land use change impact for urban heat events should set the agenda for adaptation planning at the local scale. Literature on urban heat mapping does not reveal a clear indicator to visualise the urban heat impacts that includes consequences of land use and climate changes for planning purposes. This paper introduces a stepwise approach to develop a single complex indicator to map the urban heat impact for local climate adaptation planning processes. Information on climatic drivers and land use characteristics are combined and projected for future land use and climate change impacts. Next, several visualisation techniques are developed to investigate which techniques are most effective to visualise complex information with multiple variables in one visualisation. A usability test is performed to investigate how indicator and map meet the information and communication needs of policy makers. Our findings reveal that it is important to add information on future impacts to set the agenda for adaptation planning at the local scale. Applying cartographic techniques in a map series presentation has proven to be effective to map complex information in a single image and fulfil most of the identified information needs. Based on our finding, we introduce the information enrichment chain as a promising approach to support local adaptation planning.     

Identifying water resources management strategies in adaptation to climate change under uncertainty

In this study, an integrated simulation-based allocation modeling system (ISAMS) is developed for identifying water resources management strategies in response to climate change. The ISAMS incorporates global climate models (GCMs), a semi-distributed land use-based runoff process (SLURP) model, and a multistage interval-stochastic programming (MISP) approach within a general framework. The ISAMS can not only handle uncertainties expressed as probability distributions and interval values but also reveal climate change impacts on water resources allocation under different projections of GCMs. The ISAMS is then applied to the Kaidu-kongque watershed with cold arid characteristics in the Tarim River Basin (the largest inland watershed basin in China) for demonstrating its efficiency. Results reveal that different climate change models corresponding to various projections (e.g., precipitation and temperature) would lead to changed water resources allocation patterns. Variations in water availability and demand due to uncertainties could result in different water allocation targets and shortages. A variety of decision alternatives about water allocations adaptive to climate change are generated under combinations of different global climate models and ecological water release plans. These findings indicate that understanding the uncertainties in water resources system, building adaptive methods for generating sustainable water allocation patterns, and taking actions for mitigating water shortage problems are key adaptation strategies responding to climate change.     

Occurrence and Genetic Diversity of Human Cosavirus in Sewage in Italy

Human Cosavirus (HCoSV) is a newly discovered virus whose role in human enteric diseases is still unknown. In Italy, the prevalence and genetic diversity of HCoSV are unexplored. One hundred forty-one raw sewage samples collected throughout Italy were screened for HCoSV by RT-nested PCR. HCoSV was detected in 25.5% of samples. Species A, C, and D, and a potentially new species were detected. Our results show a significant circulation and heterogeneity of HCoSV in Italy.     

Investigating missing sources of glyoxal over China using a regional air quality model (RAMS-CMAQ)

Currently, modeling studies tend to significantly underestimate observed space-based glyoxal(CHOCHO) vertical column densities(VCDs), implying the existence of missing sources of glyoxal. Several recent studies suggest that the emissions of aromatic compounds and molar yields of glyoxal in the chemical mechanisms may both be underestimated, which can affect the simulated glyoxal concentrations. In this study, the influences of these two factors on glyoxal amounts over China were investigated using the RAMS-CMAQ modeling system for January and July 2014. Four sensitivity simulations were performed, and the results were compared to satellite observations. These results demonstrated significant impacts on glyoxal concentrations from these two factors.In case 1, where the emissions of aromatic compounds were increased three-fold,improvements to glyoxal VCDs were seen in high anthropogenic emissions regions. In case 2, where molar yields of glyoxal from isoprene were increased five-fold, the resulted concentrations in July were 3–5-fold higher, achieving closer agreement between the modeled and measured glyoxal VCDs. The combined changes from both cases 1 and 2 were applied in case 3, and the model succeeded in further reducing the underestimations of glyoxal VCDs. However, the results over most of the regions with pronounced anthropogenic emissions were still underestimated. So the molar yields of glyoxal from anthropogenic precursors were considered in case 4. With these additional mole yield changes(a two-fold increase), the improved concentrations agreed better with the measurements in regions of the lower reaches of the Yangtze River and Yellow River in January but not in July.     

Reduction of Pathogenic and Indicator Viruses at a Drinking Water Treatment Plant in Southern Louisiana,USA

Monthly sampling was conducted at a drinking water treatment plant (DWTP) in Southern Louisiana, USA from March 2017 to February 2018 to determine the prev     

Maternal genetic disorders and fetal development

With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are reaching reproductive age and becoming pregnant. While pregnancy can have a significant impact on a woman's health when there is an underlying genetic disorder, there can also be fetal effects, including embryopathy, fetal growth restriction, and brain injury. Some maternal genetic disorders are associated with adverse perinatal outcomes, including a high risk of perinatal loss and preterm birth. In this article, we review several maternal genetic disorders associated with fetal risk that are important for clinicians and patients to understand and manage appropriately. These include phenylalanine hydroxylase (PAH) deficiency and other inborn errors of metabolism, tuberous sclerosis complex, myotonic dystrophy, cystic fibrosis, Turner syndrome, sickle cell disease, and connective tissue disorders.     

Discordant fetal sex on NIPT and ultrasound

Prenatal diagnosis of sex discordance is a relatively new phenomenon. Prior to cell-free DNA testing, the diagnosis of a disorder of sexual differentiation was serendipitous, either through identification of ambiguous genitalia at the midtrimester morphology ultrasound or discovery of genotype-phenotype discordance in cases where preimplantation genetic diagnosis or invasive prenatal testing had occurred. The widespread integration of cfDNA testing into modern antenatal screening has made sex chromosome assessment possible from 10 weeks of gestation, and discordant fetal sex is now more commonly diagnosed prenatally, with a prevalence of approximately 1 in 1500-2000 pregnancies. Early detection of phenotype-genotype sex discordance is important as it may indicate an underlying genetic, chromosomal or biochemical condition and it also allows for time-critical postnatal treatment. The aim of this article is to review cfDNA and ultrasound diagnosis of fetal sex, identify possible causes of phenotype-genotype discordance and provide a systematic approach for clinicians when counseling and managing couples in this circumstance.