Impact of the increased adoption of prenatal cfDNA screening on non-profit patient advocacy organizations in the United States

The ‘Stakeholder Perspectives on Noninvasive Prenatal Genetic Screening’ Symposium was held in conjunction with the 2015 annual meeting of the International Society for Prenatal Diagnosis. During the day-long meeting, a panel of patient advocacy group (PAG) representatives discussed concerns and challenges raised by prenatal cell-free DNA (cfDNA) screening, which has resulted in larger demands upon PAGs from concerned patients receiving prenatal cfDNA screening results. Prominent concerns included confusion about the accuracy of cfDNA screening and a lack of patient education resources about genetic conditions included in cfDNA screens. Some of the challenges faced by PAGs included funding limitations, lack of consistently implemented standards of care and oversight, diverse perspectives among PAGs and questions about neutrality, and lack of access to training and genetic counselors. PAG representatives also put forward suggestions for addressing these challenges, including improving educational and PAG funding and increasing collaboration between PAGs and the medical community. © 2016 John Wiley & Sons, Ltd.     

硅铝比对分子筛吸附氨氮性能的影响

基于X射线荧光光谱法确定的4种ZSM5分子筛硅铝比,分析了不同硅铝比分子筛吸附氨氮性能的差异,结合扫描电镜、X射线衍射分析结果,从分子筛的骨架组成、表面形貌和晶体结构角度,考察了硅铝比对分子筛吸附氨氮性能的影响机制;并探讨了分子筛骨架脱硅对其吸附性能的改善作用,为分子筛应用于污水厂尾水深度脱氮提供技术参考.结果表明,不同硅铝比分子筛的表面形貌、晶体结构与吸附氨氮性能具有显著差异：随着分子筛硅铝比增加,其结晶度下降、晶粒形态逐渐模糊、吸附容量降低;当实际硅铝比由35增大至237时,氨氮平衡吸附量由5.65mg/g降至0.41mg/g,由Langmuir吸附等温式确定的饱和吸附量由6.5963mg/g下降至0.4430mg/g.分子筛吸附过程符合准二级动力学模型,吸附速率受离子交换化学吸附作用机理控制,随着硅铝比升高分子筛的离子交换容量下降,其吸附速率降低.分子筛骨架脱硅能够显著改善其氨氮吸附性能,硅铝比为35的分子筛经碱蚀脱硅处理后,其氨氮平衡吸附量提高81.6%,该方法为改善分子筛吸附性能提供了一种有效的技术途径.     

The predictive value of cytogenetic diagnosis after CVS: 1500 cases

The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1·5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0·2 per cent in the last 500. In the remaining 1477 samples, 58 (3·9 per cent) chromosomal aberrations were found. Of these, 21 (36 per cent) proved not to represent the karyotype of the fetus proper. Predictive values of (different groups of) chromosomal aberrations in CVS are calculated. The impact of (differences between) the predictive value for some major chromosomal aberrations is discussed. A tissue- and chromosome-specific selection mechanism is postulated.     

西南地区土地利用变化对生态系统服务价值的影响

选择西南地区2000年、2010年、2020年3期土地利用遥感影像数据,利用土地利用动态度分析土地利用变化情况,并依据当量因子法对生态系统服务价值（ecosystem service value,ESV）开展评估。结果表明：西南地区土地利用以林地、耕地和草地为主,分别约占总面积的48%、28%、20%。人工表面、草地、林地和耕地面积变化显著,20年间的净变化量分别为11 971.18、−8 738.63、−5 344.95、−2 244.40 km²。土地利用动态度呈上升趋势,尤其是2010年后土地利用变化程度加剧,其中人工表面动态度正向变化幅度最大。2000—2020年总ESV呈下降趋势,共减少195.55亿元,其中四川省、云南省下降较为明显。各类ESV变化趋势与土地利用类型变化趋势相似,林地、草地和耕地面积的减少是导致ESV亏损的主要因素。在未来发展中,应加大对林地、草地的保护力度,加强基本农田保护和高标准农田建设,提高土地集约节约利用水平,合理规划城乡建设用地,缓解经济增长对土地资源和生态系统的压力。     

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells in one flask, another 20–40 cells must be examined from one or two additional flasks. Chromosome mosaicism is diagnosed only when an identical abnormality is detected in cells from two or more flasks. In a recent PDL series of 12 000 cases studied according to this protocol, we diagnosed 801 cases (6.68 per cent) of single-cell pseudomosaicism (SCPM), 126 cases (1.05 per cent) of multiple-cell pseudomosaicism (MCPM), and 24 cases (0.2 per cent) of true mosaicism. Pseudomosaicism (PM) involving a structural abnormality was a frequent finding (2/3 of SCPM and 3/5 of MCPM), with an unbalanced structural abnormality in 55 per cent of SCPM and 24 per cent of MCPM. We also reviewed all true mosaic cases (a total of 50) diagnosed in the first 22000 PDL cases. Of these 50 cases, 23 were sex chromosome mosaics and 27 had autosomal mosaicism; 48 cases had numerical abnormalities and two had structural abnormalities. Twenty-five cases of mosaicism were diagnosed in the first 20 cells from two flasks, i.e., without additional work-up, whereas the other 25 cases required extensive work-up to establish a diagnosis (12 needed additional cell counts from the initial two culture flasks; 13 required harvesting a third flask for cell analysis). Our data plus review of other available data led us to conclude that rigorous efforts to diagnose true mosaicism have little impact in many instances, and therefore are not cost-effective. On the basis of all available data, a work-up for potential mosaicism involving a sex chromosome aneuploidy or structural abnormality should have less priority than a work-up for a common viable autosomal trisomy. We recommend revised guidelines for dealing with (1) a numerical versus a structural abnormality and (2) an autosomal versus a sex chromosome numerical aneuploidy. Emphasis should be placed on autosomes known to be associated with phenotypic abnormalities. These new guidelines, which cover both flask and in situ methods, should result in more effective prenatal cytogenetic diagnosis and reduced patient anxiety.     

The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods

Cytogenetic analysis was performed in 4860 chorionic villus samples by means of both direct preparation and long-term culture. The results of the analysis were compared with a classification including all theoretical types of combinations between the chromosomal constitution of the cytotrophoblast, extraembryonal mesoderm, and fetus, with the aim of evaluating the cytogenetic variability along the trophoblast—embryo axis. Eighteen of 29 possible combinations were found demonstrating a considerable heterogeneity. A mosaic conceptus was found in 1·5 per cent of cases, with generalized mosaicisms and confined mosaicisms in 0·2 and 1·3 per cent, respectively. Cytogenetic variability along the trophoblast—embryo axis was found in 1·42 per cent of cases. Results possibly leading to diagnostic errors (false-positive and false-negative results) were found in only 1·38 per cent. False-positive results of direct preparation were the most commonly observed discrepancy (0·8 per cent), while the incidence of false-positive results of the culture method and of both methods was 0·31 and 0·16 per cent respectively. The incidence of false-negative results was 0·1 per cent, with false-negative results of direct preparation 0·08 per cent and false-negative results of both methods 0·02 per cent. False-negative results of the culture method were not found. Our data confirm the high diagnostic accuracy of chorionic villus sampling and the utility of the combined use of the two methods in minimizing diagnostic errors and in reducing the need for follow-up amniocentesis.     

热解温度和时间对生物炭pH值的影响

以稻草、玉米秸秆、木屑、鸡粪为实验原料,分别在不同热解温度(250℃、300℃、350℃、450℃、650℃)和热解时间条件下(30 min、60 min、90 min、120 min、180 min)制备出生物炭。并在不同生物炭与水的质量比条件下,依据正交实验设计的方案,依次测定了各种生物炭的pH值。结果表明,热解温度是影响各种生物炭pH测定值的关键性因素,生物炭与水的质量比也对pH测定值产生一定的影响,而热解时间的长短并未对生物炭pH测定值产生显著影响。在250~650℃的热解温度条件下,随着温度的升高,四种生物炭的pH值均有不同程度的升高,尤其是在250~350℃这一温度区间,四种生物炭的pH值升高速率最快,此后,随着热解温度的升高,生物炭pH值升高速率逐渐放缓,其中在250~650℃的热解条件下,稻草的pH值升高幅度最大,木屑的pH值升高幅度最小,在350~450℃这一较为理想的热解温度区间范围内所制备的四种生物炭pH值的大小顺序依次为:稻草玉米秸秆鸡粪木屑。     

初始pH值、液固比对某焚烧炉灰重金属渗滤的影响

对某煤和垃圾混烧流化床焚烧炉的一种灰样品进行了TCLP试验 ,研究了初始渗滤液pH值变化以及液固比变化对该灰中重金属渗滤特性的影响 .在初始渗滤液pH =6之前 ,渗滤后溶液的pH值升高迅速 ,pH =6之后 ,趋势缓慢 .试验结果表明灰中重金属极易在酸性环境中渗滤 .随着初始渗滤液液固比的增大 ,渗滤后溶液的pH值下降 ,渗滤液中的重金属浓度上升 ,灰中的重金属随液固比的增大不断滤出直至饱和状态 .