Prenatal cystic fibrosis carrier screening: Factors in a woman's decision to decline testing

Among 2207 women eligible to be screened for cystic fibrosis (CF) carrier status during pregnancy, 325 (15 per cent) declined to be tested. Of these, 260 (80 per cent) answered a questionnaire soliciting their reasons for not participating. The main factor was opposition to termination of pregnancy, with 43 per cent being against termination for any reason and another 11 per cent against termination of a CF fetus. Other reasons given were partner's disapproval or non-participation (10 per cent), perceived risk of a CF child being low (7 per cent), the error rate of the test (6 per cent), and the generation of unacceptable levels of anxiety (5 per cent). Eleven women (4 per cent) said that they did not wish to be tested during pregnancy, but only six of these would have accepted screening at another time.     

First-trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypes

First-trimester prenatal diagnosis of cystic fibrosis (CF) using linked DNA markers is usually only possible if there is an index affected child to establish the haplotype of the parental chromosomes. We describe a prenatal diagnosis where fibroblasts, cultured from the skin of a deceased affected child and then held in frozen storage for 3 years, were used as the starting point for tracking the CF gene. The fetus was diagnosed as a homozygous normal and the diagnosis confirmed by immunoreactive trypsin testing after birth. It was also possible to establish heterozygosity in the aunt of the affected child.     

Modelling Interactions Between Economic Activity, Greenhouse Gas Emissions, Biodiversity and Agricultural Production

In this article, we develop a modelling approach which examines selected drivers of ecosystem functioning and agricultural productivity. In particular, we develop linkages between land use and biodiversity and between biodiversity and agricultural productivity. We review the literature for quantitative estimates of key relationships and their parameters for modelling human consumption, land use, energy use, and greenhouse gas emissions on biodiversity and agricultural productivity. We assemble these specifications into an iterative causal model and carry out a number of scenario projections of country-level consumption, production, land use, energy use, greenhouse gas emissions, species diversity, and agricultural production up to 2050. Finally, we dissect the projections into key drivers using structural decomposition and sensitivity analyses.