State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions

Background

To analyze population-based trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) since the availability of non-invasive prenatal testing (NIPT).

Methods

Retrospective state-wide data for all prenatal diagnoses performed <25 weeks gestation from 2005 to 2020 in Victoria, Australia. Non-invasive prenatal testing became locally available from 2012. The prenatal diagnosis rates of SCA as proportions of all prenatal diagnostic tests and all births were calculated. Statistical significance was assessed with the χ² test for trend, with p < 0.05 considered significant.

Results

46,518 amniocentesis and chorionic villus sampling were performed during the study period, detecting 617 SCAs. There was a significant increase in the rate of prenatal SCAs from 5.8 per 10,000 births in 2005 to 8.7 per 10,000 births in 2020 (p < 0.0001). This increase was predominantly due to 47,XXY cases, 91% of which were ascertained via positive NIPT for this condition in 2020. The prenatal diagnosis rate of 47,XXY significantly increased from 0.8 per 10,000 births in 2005 to 4.3 per 10,000 births in 2020 (p < 0.0001).

Conclusion

Screening for SCAs using NIPT has directly led to an increase in their prenatal diagnosis on a population-wide basis, especially 47,XXY. This has implications for clinician education, genetic counselling, and pediatric services.     

1961～2000年瑞典地区极端降水的空间分析

本文分析了瑞典地区1961～2000年极端日降水量的空间尺度、区域变化和与之相关的天气类型.根据30km滞后距离计算的统计相关图估计年平均降水量、日降水量的99%分位值和平均年最大日雨量变化的空间尺度分别为100km、60～100km和40～70km.采用最大相似因子分析方法确定了82个站点极端降水量的区域相关.并发现有11个因子可以提供给最佳因子解决方案.极端事件发生时的天气类型是根据以逐日海平面气压为基础的客观系统划分的,并经过主观(包括锋面)修正.总体来看,极端降水事件的发生,63%在气旋类天气,32%在锋面类天气,3%在定向类天气,2%在反气旋类天气.然而,极端事件各种天气类型的发生频次不同地区之间有所不同.     

Should apple snail Pomacea canaliculata (Caenogastropoda, Ampullariidae) be used as bioindicator for BDE-209?

Apple snail Pomacea canaliculata has been reported to accumulate polybrominated diphenyl ethers (PBDEs) and was recently proposed as PBDE bioindicator. This work investigates the ability of P. canaliculata to accumulate BDE-209 by dietary exposure under controlled experimental conditions. A 30-day long enrichment feeding assay was carried out using 30 adult apple snails, placed in individual aquaria. Food was enriched at three BDE-209 concentrations (400, 4,700, and 8,300 μg g^?1 lipid weight). Correlation between BDE-209 values in food and snail tissue were estimated according to Stockholm Convention suggested criteria for chemicals with K_OW >5. All animals survived with no evident physical alterations, and all of them accumulated BDE-209. BDE-209 levels in tissue samples increased exponentially with the exposure concentration. The bioaccumulation factor vs. food concentration plot showed a peculiar pattern, in which at intermediate concentrations the snails accumulated less BDE-209 than expected. Our results suggest that P. canaliculata would present a detoxification mechanism for BDE-209 different from the most commonly reported metabolic pathways.     

Two methods to assess vulnerability to climate change in the Mexican agricultural sector

We applied two methods to assess vulnerability to climate change in Mexico’s agricultural sector. The first one was a principal component analysis (PCA) that weighted each variable separately. For the second one, we integrated the variables in a linear array in which all variables were weighted equally, and then, we used the arithmetic sum of the sub-indices of exposure and sensitivity minus the adaptive capacity to obtain the vulnerability index. We discuss the similarities and differences between two methods with respect to municipal-level maps as the outputs. The application of the method for the agricultural sector in Mexico gave us the spatial distribution of the high- and very-high vulnerability categories, which we propose as a tool for policy. The methods agreed that the very-high vulnerability category is present in 39 municipalities. Also we found that 16 % of the total population in the country is located in high-exposure areas. In addition, 41 % lives in municipalities identified as highly-sensitive. In terms of adaptive capacity, 20 % of the population lives in 1273 municipalities with low-adaptive capacity. Finally, we discuss the need for information regarding vulnerability at the national level to guide policies aimed at reducing exposure and sensitivity and increasing adaptive capacity.     

Assessing equity and sustainability of water allocation in Colombia

Based on the national database of 28,104 water rights (concessions) granted in Colombia, this paper presents an analysis of how the principles of equity and sustainability are reflected in water allocation. Concessions appear to be an exclusionary mechanism since only a minority of small water users have concessions and the distribution of water volumes among those who have them is extremely inequitable. The 2009 Gini coefficient calculated for water concessions granted for agriculture was 0.90 compared with the rural land Gini of 0.88 (both indicators grouping holdings under the same entity). More than half of the Colombian departments have a higher Gini coefficient for water than for land, suggesting that water rights are at least as unequally distributed as land, in one of the most inequitable countries in Latin America. Water allocated to domestic, agriculture and hydropower use indicates a lack of consistency of water allocation criteria across regions. The volumetric and administrative attributes of water allocation in Colombia do not account for environmental flows or the concerns of marginalised groups of society that have limited access to the mechanism. Water allocation as a technical task, with limited transparency and secluded from public scrutiny, does not contribute to the solution of increasing water-related conflicts.     

Perinatal outcomes and genomic characteristics of fetal copy number variants: An individual record linkage study of 713 pregnancies

Objective

To determine the perinatal outcomes of fetuses diagnosed with a pathogenic copy number variant (CNV) or variant of uncertain significance (VUS); and to characterize these variants in terms of testing indication, genomic location, size, and inheritance.

Methods

Retrospective study of singleton pregnancies with a pathogenic CNV or VUS from a single laboratory during 2012–2018. Probabilistic record linkage between the prenatal diagnosis dataset and perinatal outcome data for births from 20 weeks gestation was performed. If no birth record was found, this implied a pregnancy loss <20 weeks.

Results

We included 6945 prenatal microarray results; a pathogenic CNV was detected in 230 (3.3%, 95% CI: 2.9%–3.8%) and a VUS in 483 (7.0%, 95% CI: 6.4%–7.6%). Of pregnancies with a pathogenic CNV, 20.0% (95% CI: 15.3%–25.6%) had a live birth, 3.0% (95% CI: 1.5%–6.2%) had a perinatal death (stillbirth or neonatal death), and 77% (95% CI: 71.1%–81.9%) had no birth record. Of those with a VUS, 64.4% (95% CI: 60.0%–68.5%) had a live birth, 1.8% (95% CI: 1.0%–3.5%) had a perinatal death, and no birth record was found for 33.7% (95% CI: 29.7%–38.1%). Most pathogenic CNVs (61.1%) were <7 Mb in size. The most common microdeletion syndromes were DiGeorge, Wolf-Hirschhorn, and Cri-du-chat syndromes.

Conclusion

This study provides an overview of perinatal outcomes and frequency of recurrent CNVs observed in the prenatal microarray era.     

Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia

Hypochondroplasia (HCH) is a genetic skeletal dysplasia, inherited in an autosomal dominant fashion. About 50–70% of HCH patients have a mutation in FGFR3 gene and in the majority of cases it is a de novo mutation. Recent magnetic resonance imaging studies on relative large cohorts of HCH patients have showed a central nervous system involvement with a high incidence of characteristic temporal lobe and hippocampal abnormalities. To the best of our knowledge, this report shows the first magnetic resonance imaging prenatal detection of characteristic brain anomalies in a case of HCH, molecularly confirmed through postnatal FGFR3 analysis. © 2014 John Wiley & Sons, Ltd.     

Fruit traits and temporal abundance shape plant-frugivore interaction networks in a seasonal tropical forest

Interactions between fleshy fruited plants and frugivores are crucial for the structuring and functioning of biotic communities, particularly in tropical forests where both groups are diverse and play different roles in network organization. However, it remains poorly understood how different groups of frugivore species and fruit traits contribute to network structure. We recorded interactions among 28 plant species and three groups of frugivores (birds, bats, and non-flying mammals) in a seasonal forest in Mexico to determine which species contribute more to network structure and evaluate the importance of each species. We also determined whether fruit abundance, water content, morphology traits, and fruiting phenology are related to network parameters: the number of interactions, species contribution to nestedness, and species strength. We found that plants did not depend on a single group of frugivores, but rather on one species of each group: the bird Pitangus sulphuratus, the bat Sturnira parvidens, and the non-flying mammal Procyon lotor. The abundance, size, and water content of the fruits were significantly related to the contribution to nestedness, number of interactions, and species strength index of plant species. Tree species and birds contributed mainly to the nested structure of the network. We show that the structure of plant-frugivore networks in this seasonal forest is non-random and that fruit traits (i.e., abundance, phenology, size, and water content) are important factors shaping plant-frugivore networks. Identification of the key species and their traits that maintain the complex structure of species interactions is therefore fundamental for the integral conservation of tropical forests.     

Effective Transboundary Aquifer Areas: An Approach for Transboundary Groundwater Management

The natural complexity, heterogeneity, and extent of transboundary aquifers around the world, have led to controversy over which method or criteria should be used to identify and delineate their boundaries. Currently, there is no standard methodology that aquifer‐sharing countries can use to delineate the area of a transboundary aquifer. In the case of Mexico and Texas, Mexico uses administrative boundaries, whereas Texas uses geological boundaries. This paper proposes a method for delineation and prioritization of aquifers (or aquifer areas) called effective transboundary aquifer areas (ETAAs), which uses a combination of physical criteria (geological boundaries, topography, and hydrography) and the location and density of active water wells in the borderland between Mexico and Texas. This method identifies the area of priority (productivity area) in the aquifer using pumping patterns or hot spots regardless of the aquifer’s surficial geological limits, therefore offering a more effective, local and practical management option at the transboundary level. Different geological features or pumping patterns will have different sizes and locations of ETAAs within the same aquifer. In West Texas, which is dominated by bolsons, the method produces limited options for ETAAs, whereas in South Texas in the easternmost border the identified ETAAs are more significant.     

Effects of Fish Stocking on Ecosystem Services: An Overview and Case Study Using the Stockholm Archipelago

In this article, we focus on documented and possible effects of fish stocking in terms of ecosystem services. The increasing use of fish stocking between 1970 and 2000 in the semiurban setting of Stockholm archipelago, Sweden, is used as case study. The objective is to analyze this management practice from an ecosystem perspective, accounting for both the ecological and social context of releasing fish. The results show that enhancements of four native species (Salmo S. trutta, Salmo salar, Stizostedion lucioperca, and Anguilla anguilla) have dominated over new introductions of one nonnative species. (Oncorhynchus mykiss). The major objective has been to increase fish catches for local resource users. Involved stakeholders include three management agencies, one hydropower company, and several local sport fishing associations. Documented effects focus on recapture and production rates. However, our analysis suggests that additional positive or negative effects on biodiversity, food web dynamics, mobile links, or ecological information may also result, with possible consequences for the long-term provision of food, game, and aesthetic values. We conclude that a more adaptive and cooperative management approach could benefit from a deeper analysis of where, when, and what species is released, by whom, which stakeholders that use the fish and those ecosystem services the fish generate, and of the role of formal and informal institutions for monitoring and evaluating the success of releasing fish.