Carrier screening for cystic fibrosis

A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. Only in the latter form of screening has sufficient data been collected to allow conclusions to be reached on the optimum mode of delivery. It seems very probable that when CF carrier screening passes into routine service, it will be the antenatal couple model that is used.     

Neonatal lung function following mid-trimester amniocentesis

Three hundred and fifty-four women who underwent midtrimester genetic amniocentesis were matched for age, parity, indication, and smoking history, with an equivalent number of women who had declined the procedure, for the purpose of comparing the neonatal respiratory status of their offspring. There was no evidence that the infants exposed to genetic amniocentesis were compromised.     

研究单位压边力值对板料成形性能的影响

主要介绍板料在拉深成形过程中单位压边力值对板料成形性能的影响。研究方法采用仿真技术 ,指出板料在成形过程中如按最初设定的单位压边力值进行成形 ,那么 ,板料成形过程中单位压边力值将逐渐增大 ,严重影响板料成形极限。如果采用控制板料在成形过程中压边圈下坯料的单位压边力值 ,将提高板料成形极限。其结论为生产现场提高板料成形性能和表面质量提供了一种可实施的方法。     

水中酚类有机污染物HPLC分析及其应用

超声辐照技术降解水中有机污染物，其降解效率的主平价需要简单、快捷和精确的分析方法。为此研究了5种优先控制酚类污染物的HPLC分离及定量分析方法，方法的定量范围为0.4-100mg/L，检测限介于0.34-0.79ng/μL。4－氯酚的超声降解实验表明，随着反应溶液中4－氯酚初始浓度的降低，降解效率明显提高，因此该方法适用于超声降解过程中酚类污染物的跟踪测定。     

环境工程设计质量保障体系探讨

以污水处理工程为例，阐明环境工程设计质量保障体系的构成，概述设计原则以及每一设计步骤所需注意的问题，对验证、确保设计质量的后续工作过程作了简要的介绍。     

我国SO_2和NO_X排放强度地理分布和历史趋势

根据我国燃料消费、燃料的含硫量和硫与氮氧化物排放因子，计算我国各地区ＳＯ_２和ＮＯ_Ｘ排放强度地理分布。结果指出，我国原煤含硫量为１．１２％。１９９０年全国ＳＯ_２和ＮＯ_Ｘ的排放量分别为１７５１．８万ｔ和８４２．２万ｔ，排放强度最大的地区是中东部地区，即辽宁、河北、山东、山西和浙江。这些地区平均排放强度大于７ｔ／ｋｍ￣２·ａ。还估算了全国１９５０～１９９０年ＳＯ_２和ＮＯ_Ｘ历年的排放量。     

Normal development in two six-year-old boys born after prenatal diagnosis of trisomy 20 mosaicism

Prenatal diagnosis of trisomy 20 mosaicism was made in two pregnancies by chromosome analysis of cultured amniotic fluid cells. In both cases, the pregnancy continued to term and a healthy male infant was delivered. Regular assessments up to the age of 6-5 years revealed normal physical and intellectual development in both children.     

Duration of vaginal bleeding and trisomy at prenatal diagnosis

In the case-control study of 118 women with autosomal trisomy identified at prenatal diagnosis and their 442 karyotypically normal matched controls, we found that there was no overall association between risk of trisomy and the presence of vaginal bleeding during pregnancy. However, a lengthy duration of bleeding appears to predict increased risk of trisorny.     

Chorionic villus culture for prenatal diagnosis of chromosome defects: Reduction of the long-term cultivation time

We report in detail two series of chorionic villus cultivation for prenatal chromosomal diagnosis. Chorionic villi were sampled from both first- and second-trimester pregnancies. One hundred cultures were treated with trypsin–EDTA for 2 h and collagenase overnight, (method A) and 100 were treated with trypsin–EDTA for 1 h and collagenase for 2 h (method B). Using short-term enzymatic digestion, the cultivation time was reduced from 14 days to 6 days. Sufficient amounts of metaphases of good quality were present in 93 per cent of primary cultures harvested in situ, whereas enough metaphases of sufficiently good quality were in most cases present only after subcultivation of the cultures using method A. The decrease in cultivation time obtained is probably due to a higher yield of viable cells in monocellular suspension, an increased attachment efficiency, and a more rapid attachment of single cells (within 24 h).