Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies

Discrepant chromosome findings in placenta and fetus (false negative and false positive) after chorionic villus sampling (CVS) are mainly due to confined mosaicism. Non-mosaic normal or abnormal chromosome counts after direct preparation and culture nearly always correctly reflect the fetal chromosome constitution. False-negative results have almost exclusively been restricted to cytotrophoblast cells not representing a fetal chromosome abnormality. Diagnosis of placental mosaicism definitely requires an adequate follow-up by amniocentesis, fetal blood sampling, or sonography before a pregnancy is terminated. When direct preparations and cultured cells are used for cytogenetic diagnoses and placental mosaicism is not taken as proof for a chromosomal abnormality in the fetus, CVS is an accurate diagnostic tool.     

Trophoblast-like cells sorted from peripheral maternal blood using flow cytometry: A multiparametric study involving transmission electron microscopy and fetal dna amplification

Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male fetuses. At the ultra-structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter-villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y-specific sequences in two out of three samples of sorted TLCs. These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non-invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities.     

Prenatal diagnosis of congenital cystic adenomatoid lung malformation: A report of seven cases

Six cases of macrocystic and one case of microcystic congenital adenomatoid lung malformation were diagnosed by ultrasound between 20 and 31 weeks of gestation. Combined polyhydramnios and fetal hydrops was present in three cases, polyhydramnios alone in one case, and isolated fetal hydrops also in one case. In the remaining two cases, both polyhydramnios and fetal hydrops were absent. Fetal outcome was poor, i.e., two terminations of pregnancy, three early neonatal deaths, and two survivors.     

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.