Prenatal diagnosis of chinese homozygous α-thalassaemia 1 and haemoglobin H disease by analysis of α- and φζ-globin genes in chorionic villi and amniocytes

Eighty-eight high-risk pregnancies, 81 for homozygous α-thalassaemia 1 and 7 for haemoglobin (Hb) H disease, were collected in this study. Chorionic villus sampling (CVS) was done in 63 cases and amniocentesis in 25 cases to obtain fetal cells. Southern blotting and DNA hybridization with α- and φζ-globin gene probes were used to determine the α-globin gene status. In two non-informative families with non-deletional mutations, DNA analysis failed to rule out the affected condition, and fetal blood sampling (FBS) and Hb electrophoresis were used for the final diagnosis. In the 81 fetuses at risk for homozygous α-thalassaemia 1, 17 (13 by CVS and 4 by amniocentesis) were afffected, 30 were α-thalassaemia 1 heterozygotes, 19 were normal, and the remaining 15 were either normal or heterozygous. In the seven fetuses at risk for Hb H disease, one was normal, three were α-thalassaemia 1 heterozygotes, two were α-thalassaemia 2 heterozygotes, and one was affected with Hb H disease and developed hydrops fetalis. DNA analysis on fetal cells enabled us to diagnose prenatally severe α-thalassaemias, to prevent the birth of infants with Hb H disease, and to minimize maternal obstetrical complications from harbouring a fetus with Hb Bart's hydrops fetalis.     

恶臭监测分析中若干问题的探讨

从实际的恶臭监测分析出发,结合执行与实践《恶臭污染物排放标准》、《空气质量恶臭的测定三点比较式臭袋法》过程中的各种体会,从标准本身、采样以及分析的质量保证这三个方面,对恶臭监测分析中的相关问题进行了探讨。建议对排放标准的适用范围进行调整,增加行业排放标准,对有组织排放增加浓度排放限值进行规定,对采样气象条件、采样点位、采样频率进行明确,并引入背景值或本底值的测量,对测量结果进行修正。最后针对分析环节,就采样器材、实验室和分析人员三个方面提出了相应的质量保证要求,以确保恶臭测定方法的准确有效。     

First-trimester maternal serum human chorionic gonadotrophin as a marker for fetal chromosomal disorders

The Dutch Working Party on Prenatal Diagnosis has initiated a study on the possibilities of first-trimester screening for fetal chromosomal disorders. We report on maternal serum human chorionic gonadotrophin (MS-hCG) measurements in 1348 pregnancies with a chromosomally normal fetus and 53 pregnancies with a chromosomally abnormal fetus. The median MS-hCG concentration in 24 pregnancies with Down's syndrome was 1.19 multiples of the normal median (MoM). The MS-hCG distributions in normal and Down's syndrome pregnancies did not differ significantly (t-test: t = 1.945, p >0.05). We also found no difference between normal pregnancies and pregnancies with other chromosomal disorders (six cases of trisomy 18, MoM = 0.80; four cases of sex chromosome abnormality, MoM = 1.01; 17 cases of chromosomal mosaicism in chorionic villi, MoM = 1.11). Selecting an upper limit at the 90th centile could detect 25 per cent of pregnancies with Down's syndrome. We conclude that, in the first trimester, MS-hCG as a screening factor for Down's syndrome is of minor value. However, MS-hCG could be a useful factor in a first-trimester screening programme based on a combination of markers.     

First trimester PAPP-A in the detection of non-Down syndrome aneuploidy

Combined first trimester screening using pregnancy associated plasma protein-A (PAPP-A), free β-human chorionic gonadotrophin, and nuchal translucency (NT), is currently accepted as probably the best combination for the detection of Down syndrome (DS). Current first trimester algorithms provide computed risks only for DS. However, low PAPP-A is also associated with other chromosome anomalies such as trisomy 13, 18, and sex chromosome aneuploidy. Thus, using currently available algorithms, some chromosome anomalies may not be detected. The purpose of the present study was to establish a low-end cut-off value for PAPP-A that would increase the detection rates for non-DS chromosome anomalies. The study included 1408 patients who underwent combined first trimester screening. To determine a low-end cut-off value for PAPP-A, a Receiver–Operator Characteristic (ROC) curve analysis was performed. In the entire study group there were 18 cases of chromosome anomalies (trisomy 21, 13, 18, sex chromosome anomalies), 14 of which were among screen-positive patients, a detection rate of 77.7% for all chromosome anomalies (95% CI: 55.7–99.7%). ROC curve analysis detected a statistically significant cut-off for PAPP-A at 0.25 MoM. If the definition of screen-positive were to also include patients with PAPP-A<0.25 MoM, the detection rate would increase to 88.8% for all chromosome anomalies (95% CI: 71.6–106%). This low cut-off value may be used until specific algorithms are implemented for non-Down syndrome aneuploidy. Copyright © 2001 John Wiley & Sons, Ltd.     

污染场地土壤气被动采样技术研究进展

在VOCs(挥发性有机物)污染场地调查中,土壤气采样的重要性日益受到重视.常规的土壤气采样主要依赖吸附管和采样罐等主动采样方法,但主动采样有很多缺点.作为一种新兴的采样技术,被动采样具有成本低、操作简单、更能代表长时间人体暴露、可用于低渗透性地层等优点,已经成为污染场地调查领域的研究热点.对被动采样的理论基础、采样器类型、吸附剂类型、采样误差的来源进行了介绍,对土壤气被动采样中存在的技术难题以及前沿研究方向进行了讨论,并对该技术在我国场地调查领域的应用前景进行了展望和建议.结果表明:在被动采样中准确控制采样器的采样速率(uptake rate)是保证其定量能力的关键,当控制采样速率低于土壤气中VOCs的补给速率时,可以实现良好的定量效果.影响采样速率的主要因素包括待测VOCs的性质、吸附剂种类、采样器结构以及各类环境因素,挥发性强的VOCs较难被捕集且容易发生逃逸.不同被动采样器用于不同种类VOCs采样时的采样速率可以相差6个数量级,从最低的0.005 5 mL/min到最高的125 mL/min.因此,建议在实际采样中应选用结构合理的采样器,控制采样速率不宜过大,以降低饥饿效应的产生...     

石油类废水采样器分析

讨论了现有的石油类废水的采样器。用分液漏斗和普通玻璃漏斗组装成石油类污水采样器，用CY-2000多功能红外测油仪对模拟水样进行分析。结果表明水样中石油类平均值为11．00mg／L，显著性检验t值为1．476〈t0.05（6）=2．45，无显著性差别。说明设计的采样器更符合实际要求。     

我国西北工业区城市大气多氯联苯来源及健康风险

采用大气被动采样器观测了我国西北城市皋兰的城区和工业集中区2018年非取暖季和取暖季大气中18种多氯联苯(PCBs)的浓度及污染特征,并利用主成分分析、轨迹模型以及呼吸暴露模型对其污染来源和传输迁移、人群健康风险进行分析和评价.研究区大气PCBs浓度为110.2～429.9 pg·m^-3,平均污染程度工业园区较高; PCBs组成以四氯联苯和五氯联苯为主,并且取暖季四氯联苯所占比重明显上升.PCBs污染源以燃烧和工业热过程源、含PCBs电气设备源和PCBs混合源为主,燃烧和工业热过程源污染贡献高于其他污染源,污染贡献达到40.8%;研究区PCBs污染可能在较大程度上受到UP-PCBs排放的影响.轨迹分析表明研究区PCBs可能会通过大气输送至兰州城区;非取暖季研究区可能主要受局地污染的影响,而取暖季则可能会受到西北方向PCBs的污染输入.健康风险评价显示各年龄段人群大气PCBs暴露的非致癌风险水平较低,但终生致癌风险已超过10^-6水平.燃烧和热过程源PCBs排放对居民PCBs暴露有较强影响,且居民长期的PCBs呼吸暴露可能会对其健康产生不利影响.     

某工业场地砷污染的加密布点优化与精度对比分析

场地污染调查是开展场地风险评估和修复的基础,随着我国颁布建设用地土壤风险管控标准等文件,提出风险筛选值和管制值的分级管控体系,我国土壤污染调查工作对于精确掌握污染物浓度梯度及空间分布有了更高的要求,因而如何构建高效采样布点方法变得尤为重要.本研究以南京市某砷工业污染场地为例,开展了优化布点方法与调查精度的研究.首先,在初查数据的基础上,运用指示克里格的方法预测土壤污染概率,参考城市土壤背景值开展阈值设定,提取加密布点区域,之后结合场地历史生产资料与自然信息布设加密点位,最终将插值预测污染结果与非加密、均匀加密、真实情况结果进行对比,验证方法精度.结果表明：本方法符合国际中基于设计抽样以达到场地调查简单、经济、客观的理念,适用于数据存在明显空间相关性的场地;该方法获得的污染区域面积占比为8.32%,与8.57%的现实情况较为接近,但普通法得到的污染面积比相对未加密情况不升反降,可能的原因是在非污染区域增设点位会造成阈值边缘区域在模拟时往清洁区域偏移,污染区域被误判为清洁,反而造成结果偏差;在目前我国环境管理对超阈范围重点关注的背景下,该方法既能够节约布点成本,又精确化预测场地污染超标范围,为后续的场地修复和治理工作提供帮助.