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.     

Energy use and transport correlation linking personal and travel related energy uses to the urban structure

This paper considers relationships between sustainability objectives, transport, spatial design of the built environment and rational use of energy. Conventional transport modelling, housing supply and energy assessment tools are drawn together to provide a common platform for appraisal of city-wide energy use by stationary and mobile sources. The paper outlines methodologies developed for the city of Belfast, Northern Ireland. The paper concludes by briefly reviewing the effect in terms of mobile and stationary energy consumption and travel behaviour of implementing sustainable policy measures in current and future years within the study area.     

Scale,context, and decision making in agricultural adaptation to climate variability and change

This work presents a framework for viewing agricultural adaptation, emphasizing the multiple spatial and temporal scales on which individuals and institutions process information on changes in their environment. The framework is offered as a means to gain perspective on the role of climate variability and change in agricultural adaptation, and developed for a case study of Australian agriculture. To study adaptation issues at the scale of individual farms we developed a simple modelling framework. The model highlights the decision making element of adaptation in light of uncertainty, and underscores the importance of decision information related to climate variability. Model results show that the assumption of perfect information for farmers systematically overpredicts adaptive performance. The results also suggest that farmers who make tactical planting decisions on the basis of historical climate information are outperformed by those who use even moderately successful seasonal forecast information. Analysis at continental scales highlights the prominent role of the decline in economic operating conditions on Australian agriculture. Examples from segments of the agricultural industry in Australia are given to illustrate the importance of appropriate scale attribution in adapting to environmental changes. In particular, adaptations oriented toward short time scale changes in the farming environment (droughts, market fluctuations) can be limited in their efficacy by constraints imposed by broad changes in the soil/water base and economic environment occuring over longer time scales. The case study also makes the point that adaptation must be defined in reference to some goal, which is ultimately a social and political exercise. Overall, this study highlights the importance of allowing more complexity (limited information, risk aversion, cross-scale interactions, mis-attribution of cause and effect, background context, identification of goals) in representing adaptation processes in climate change studies.     

Prenatal diagnosis,fetal pathology,and cytogenetic analysis of mosaic trisomy 14

While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth.     

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).