Role of the second-trimester ‘genetic sonogram’ for Down syndrome screen in the era of first-trimester screening and noninvasive prenatal testing

Ultrasonography for the screening of Down syndrome was first introduced about 25 years ago. Different combinations of markers detectable at second-trimester ultrasonography have been proposed under the banner of ‘genetic sonogram’. In recent years, several developments in first-trimester screening and the recent introduction of noninvasive prenatal testing for aneuploidy screening have had important implications for the prevalence of these conditions in the second-trimester and the screening performance of a genetic sonogram. Several second-trimester sonographic markers for Down syndrome have been reported; meta-analysis has shown that the most powerful predictors are mild ventriculomegaly, increased nuchal fold, hyperechoic bowel, and absent or hypoplastic nasal bone. Whereas use of individual markers should be discouraged and scoring systems of multiple markers are now obsolete, use of combined likelihood ratio and logistic regression analysis formulae provides better accuracy. However, there is significant heterogeneity in results among studies. Despite such limitations, the genetic sonogram will continue to have a place in prenatal screening, particularly in twin and higher-order multiple pregnancies, in countries with limited access to the most recent genetic screening tests, in cases with borderline results at maternal serum screening tests, and as noninvasive supplementary test for high-risk women reluctant to undergo invasive diagnostic testing. © 2014 John Wiley & Sons, Ltd.     

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.     

Adsorption and desorption of Cu(Ⅱ) and Pb(Ⅱ) in paddy soils cultivated for various years in the subtropical China

The adsorption and desorption of Cu(Ⅱ) and Pb(Ⅱ) on upland red soil,and paddy soils which were originated from the upland soil and cultivated for 8,15,35 and 85 years,were investigated using the batch method.The study showed that the organic matter content and cation exchange capacity (CEC) of the soils are important factors controlling the adsorption and desorption of Cu(Ⅱ) and Pb(Ⅱ).The 15-Year paddy soil had the highest adsorption capacity for Pb(Ⅱ),followed by the 35-Year paddy soil.Both the 35-Year paddy soil and 15-Year paddy soil adsorbed more Cu(Ⅱ) than the upland soil and other paddy soils.The 15-Year paddy soils exhibited the highest desorption percentage for both Cu(Ⅱ) and Pb(Ⅱ).These results are consistent with the trend for the CEC of the soils tested.The high soil CEC contributes not only to the adsorption of Cu(Ⅱ) and Pb(Ⅱ) but also to the electrostatic adsorption of the two heavy metals by the soils.Lower desorption percentages for Cu(Ⅱ) (36.7% to 42.2%) and Pb(Ⅱ) (50.4% to 57.9%) were observed for the 85-Year paddy soil.The highest content of organic matter in the soil was responsible for the low desorption percentages for the two metals because the formation of the complexes between the organic matter and the metals could increase the stability of the heavy metals in the soils.     

Efficient reduction of Cr(Ⅵ) by guava(Psidium guajava) leaf extract and its mitigation effect on Cr toxicity in rice seedlings

Hexavalent chromium(Cr(Ⅵ)) is a toxic element that has negative impacts on crop growth and yield. Using plant extracts to convert toxic Cr(Ⅵ) into less toxic Cr(Ⅲ) may be a more favorable option compared to chemical reducing agents. In this study, the potential effects and mechanisms of using an aqueous extract of Psidium guajava L. leaves(AEP) in reducing Cr(Ⅵ)toxicity in rice were comprehensively studied. Firstly, the reducing power of AEP for Cr(Ⅵ)was confirmed by the cyclic voltammetry combi...     

The effect of continuous Ni(Ⅱ) exposure on the organic degradation and soluble microbial product(SMP) formation in two-phase anaerobic reactor

A two-phase anaerobic reactor fed with glucose substrate (3 g chemical oxygen demand (COD)/L) was used to investigate the effects of toxic metals on the degradation of organics and the soluble microbial product (SMP) formation. Low concentrations of Ni(II) (5 and 10 mg/L) promoted the acid phase, whereas high concentrations (15, 20, and 25 mg/L) exhibited an inhibitory effect on, but did not alter the fermentative method, which mainly involved the fermentation of propionic acid. The methanogenic microorganism exhibited a strong capability adapting constantly increased Ni(II) levels. The acid phase was an accumulation stage of SMP. In the absence of Ni(II), the high-molecular-weight material in the effluent SMP mainly contained polysaccharide, tryptophan, and casein. Methanogens metabolized most of the polysaccharide, the whole tryptophan content, and part of the casein, leading to the presence of humic acid and protein in effluent. After Ni(II) dosage, the protein and polysaccharide of the acid phase increased, and tryptophan changed, while casein remained stable. More protein than polysaccharide was produced, suggesting the prominent function of protein when addressing the negative effect of toxic metals. The analysis of DNA confirmed the change of bacterial activity.     

Brief introduction of ten-year (1991-2000) programme of science and technology for environmental protection in China (Abstract)

1 Science and technology for environmental protection in China The guiding principles in formulating the ten-year Programme of science and tech-nology for environmental protection are as follows: 1.1 Science and technology should be great to the need economic construction and economic construction must rely on science and technology.     

Application of constructed wetlands for wastewater treatment in tropical and subtropical regions (2000–2013)

Constructed wetlands (CWs) have been successfully used for treating various wastewaters for decades and have been identified as a sustainable wastewater management option for developing countries. With the goal of promoting sustainable engineered systems that support human well-being but are also compatible with sustaining natural (environmental) systems, the application of CWs has become more relevant. Such application is especially significant for developing countries with tropical climates, which are very conducive to higher biological activity and productivity, resulting in higher treatment efficiencies compared to those in temperate climates. This paper therefore highlights the practice, applications, and research of treatment wetlands under tropical and subtropical conditions since 2000. In the present review, removal of biochemical oxygen demand (BOD) and total suspended solid (TSS) was shown to be very efficient and consistent across all types of treatment wetlands. Hybrid systems appeared more efficient in the removal of total suspended solid (TSS) (91.3%), chemical oxygen demand (COD) (84.3%), and nitrogen (i.e., 80.7% for ammonium (NH)₄-N, 80.8% for nitrate (NO)₃-N, and 75.4% for total nitrogen (TN)) as compared to other wetland systems. Vertical subsurface flow (VSSF) CWs removed TSS (84.9%), BOD (87.6%), and nitrogen (i.e., 66.2% for NH₄-N, 73.3% for NO₃-N, and 53.3% for TN) more efficiently than horizontal subsurface flow (HSSF) CWs, while HSSF CWs (69.8%) showed better total phosphorus (TP) removal compared to VSSF CWs (60.1%). Floating treatment wetlands (FTWs) showed comparable removal efficiencies for BOD (70.7%), NH₄-N (63.6%), and TP (44.8%) to free water surface (FWS) CW systems.     

Preparation, characterization and application of thiosemicarbazide grafted multiwalled carbon nanotubes for solid-phase extraction of Cd(Ⅱ), Cu(Ⅱ) and Pb(Ⅱ) in environmental samples

Thiosemicarbazide-grafted multi-walled carbon nanotubes were prepared and employed to investigate the pre-concentration of Cd（Ⅱ）, Cu（Ⅱ） and Pb（Ⅱ） from aqueous solution prior to their determination by ICP-OES. The resulting material was characterized by FT-IR, TGA and SEM. Various factors influencing the separation and pre-concentration were investigated. The enrichment factor typically is 60. Under optimized experimental conditions, the maximum adsorption capacities of Cd（Ⅱ）, Cu（Ⅱ） and Pb（Ⅱ） were found to be 1.98, 10.94, 3.69 mg/g, and the relative standard deviations are 〈 3.5% （n = 6）. The new adsorbent shows superior reusability and stability. The procedure was successfully applied to the determination of trace quantities of Cd（Ⅱ）, Cu（Ⅱ） and Pb（Ⅱ） in water samples.     

Adsorption and mechanistic study of the invasive plant-derived biochar functionalized with CaAl-LDH for Eu(Ⅲ) in water

Herein,we developed the invasive plant-derived biochar (IPB) functionalized with CaAl-LDH at five mass ratios using a physical mixture method,assessed their adsorption perform for Eu(Ⅲ),and explored the relative mechanisms.Results show that the IPB successfully loaded CaAl-LDH in five composites and their Eu(Ⅲ) sorption affinities were strongly affected by solution p H,contact time,temperature,and the mass ratio of LDH and IPB.All the sorpiton process for Eu(Ⅲ) occurred on the heterogeneous surf...