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Noninvasive prenatal testing (NIPT) using cell-free DNA is being offered to an increasing number of women. Comprehensive pre-test counseling is complicated by emerging information about the benefits and limitations of testing, as well as the potential to detect incidental findings. Genetic counselors are trained to facilitate informed decision-making; however, not all centers have access to these professionals. To aid in the informed consent process, we have summarized key points to be included in discussions with patients who are considering NIPT. © 2015 John Wiley & Sons, Ltd.  相似文献   

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Objective

To evaluate the test accuracy of non-invasive prenatal testing (NIPT) for fetal trisomy 21, 18, and 13 using cell-free (cf) DNA analysis in maternal plasma with microarray quantitation.

Method

Systematic review and meta-analysis. Searches in MEDLINE, Pre-MEDLINE, EMBASE, Web of Science, and the Cochrane Library to 09.07.2018.

Results

Five studies analyzing 3074 samples, including 187 trisomy 21, 43 trisomy 18, and 19 trisomy 13 cases, were identified. Risk of bias was high in all studies, introduced particularly by exclusions from analysis and by the role of the sponsor. Sensitivity of microarray-based cfDNA testing was 99.5% (95%CI 96.3%-99.9%) for trisomy 21, 97.7% (95%CI 87.9%-99.6%) for trisomy 18, and 100% (95%CI 83.2%-100%) for trisomy 13. Specificity was 100% (95% CI 99.87%-100%) for trisomy 21, 99.97% (95%CI 99.81%-99.99%) for trisomy 18, and 99.97% (95%CI 99.81%-99.99%) for trisomy 13. Pooled test failure rate was 1.1%. A direct comparison of microarray- and sequencing-based cfDNA found equivalent test accuracy.

Conclusion

Included studies suggest that NIPT using microarray-based cfDNA testing has high sensitivity and specificity for detecting fetal trisomy 21, 18, and 13. However, the evidence base is small and at high risk of bias.  相似文献   

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《Journal of Cleaner Production》2006,14(12-13):1158-1167
This paper reviews a series of alternative lixiviant systems for the recovery of gold from ores and concentrates. For over 100 years, cyanide has been the leach reagent of choice in gold mining because of its high gold recoveries, robustness and relatively low costs. The environmental damages resulting from its mismanagement, however, have initiated widespread research aimed at identifying and developing less toxic leaching agents. The most widely-researched alternative lixiviants for gold ores are examined in this paper, but it is evident that none has yet made any significant inroad into the dominant position of cyanide as the reagent of choice at the vast majority of gold mines worldwide.  相似文献   

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李军  陈洪彬  李希玲 《海洋环境科学》2017,36(2):291-295, 302
本文针对56个海洋行业监测检测实验室进行的海洋生物体中As和海洋沉积物中Cd含量测定结果,采用稳健统计技术(Robust statistical technique)方法进行了评价分析。结果表明,参加本次能力验证活动的大多数实验室检测能力良好,其出具的检测数据可信。少数实验室检测结果有问题或不满意,鼓励这些实验室认真查找问题,积极采取纠正措施,改进实验室管理和质量控制,提升并保持检测能力。研究表明,稳健统计技术在本次实验室能力验证结果评价中应用效果良好,真实全面的反应了各实验室检测能力现状。  相似文献   

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渤海S油田A2井渗氮防腐油管在注聚过程中发现多处腐蚀穿孔,为避免换管柱后再次发生腐蚀失效,通过腐蚀形貌观察、腐蚀产物分析、腐蚀介质分析对A2井油管腐蚀失效原因进行了研究。认为A2井油管部分渗氮层脱落,形成了电化学腐蚀的阳极,这是造成局部腐蚀的根本原因。注入水中存在较高含量的氯离子和硫酸盐还原菌,加剧了腐蚀进程,造成油管腐蚀穿孔,形成了以FeCO_3为主的腐蚀产物。建议加强渗氮油管质量管控,防止入井前渗氮层脱落,同时在注入水中加入杀菌剂减少细菌对腐蚀的影响,并在井下安装牺牲阳极短节预防腐蚀。  相似文献   

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《Journal of Cleaner Production》2007,15(11-12):1022-1031
Government in UK has long sought to influence both new vehicle fuel efficiency and to encourage domestic car production. Sixty years of data on the change in car characteristics and fuel economy are analysed. Vehicle specific power has doubled in that time and sales of vehicles have grown preferentially in larger engine classes. New cars sold over the period 1970–2000 have a sale price of £150 per bhp at year 2000 prices. A new theory is proposed that the primary driver for increased power of vehicles, and hence CO2 production, is the increase in sale price necessitated by uneconomic production of steel vehicles in mature markets. The standard fuel test cycle shows inverse fuel efficiency relationship with weight and with vehicle power. Primary CO2 reduction targets such as the Kyoto agreement are dimensioned as outputs of energy use per unit time (power); secondary targets such as the ACEA voluntary agreement of 140 g/km in 2008 based on energy per unit distance (efficiency). Failure to focus policy on the key variable of vehicle power has allowed power to continue to increase and inhibit fuel efficiency from meeting the voluntary agreement targets. This power ‘loophole’ in Europe is likened to the emergence of light trucks in response to CAFE standards in USA. New body materials offer the prospect of profitable car production, consumer satisfaction and large reductions in CO2. New policy directions are proposed as a result of the failure of the ACEA voluntary agreement and the real importance of achieving annual CO2 reduction including via Cars 21.  相似文献   

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