Attitudes of women of childbearing age towards prenatal diagnosis in Southeastern France

The objective of this study was to explore women's attitudes towards prenatal diagnosis of trisomy 21 and to examine some of the factors possibly responsible for these attitudes before implementing in real practice serological screening of pregnant women at risk for trisomy 21. We carried out a telephone survey on a representative sample of women who had recently had a normal livebirth delivery in the Marseille district in 1990. The participation rate was 80 per cent and the average age of the mothers was 28-9 years. Among the 514 women interviewed, 78 per cent stated that they would ask for an amniocentesis for a 1 per cent risk of trisomy 21 at their next pregnancy. When adjusting for confounding factors, the decision to have or not to have an amniocentesis was found to depend not only on the women's attitude towards induced abortion, but also on their understanding of the risk involved and on the social context (knowing a handicapped child, discussion with the father). It also depended on the women's age and on what they knew about amniocentesis from the medical point of view. The risk of miscarriage can influence a woman's choice but this objection was not found to affect the women's decisions significantly in our survey. The data showed the existence of a high potential demand for fetal karyotyping.     

Pulmonary stenosis and reactive right ventricular hypertrophy in the recipient fetus as a consequence of twin-to-twin transfusion

The present study describes an association between adverse outcome in the twin-to-twin transfusion syndrome (TTTS) and pulmonary stenosis or reactive right ventricular hypertrophy. Six discordant monozygotic twin pregnancies with TTTS are described. Ventricular hypertrophy and atrioventricular valvular regurgitation occurred in all the recipient twins with pulmonary valvular stenosis in three cases and infundibular stenosis in one case. The recipient twin in one pair and both twins in another pregnancy died as a consequence of immaturity but the remaining twins all survived. Surgical intervention was required in one baby for valvular pulmonary stenosis. Our observations suggest that elevated blood pressure in the transfusion recipient may play an important role in pathogenesis. We hypothesise that both pulmonary stenosis and right chamber hypertrophy are secondary to hemodynamic changes. Although we have found valvular pulmonary stenosis in three recipients and infundibular stenosis in only one, this (obstruction to outflow) could be due to right chamber hypertrophy. Copyright © 2001 John Wiley & Sons, Ltd.     

Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.     

A new report of mesomelic camptomelia,polydactyly and Dandy–Walker complex in siblings

Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy–Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern. Copyright © 2003 John Wiley & Sons, Ltd.     

NUTGRANJA 2.0: a simple mass balance model to explore the effects of different management strategies on nitrogen and greenhouse gases losses and soil phosphorus changes in dairy farms

Farm nutrient management has been identified as one of the most important factors determining the economic and environmental performance of dairy cattle (Bos taurus) farming systems. Given the environmental problems associated with dairy farms, such as emissions of greenhouse gases (GHG), and the complex interaction between farm management, environment and genetics, there is a need to develop robust tools which enable scientists and policy makers to study all these interactions. This paper describes the development of a simple model called NUTGRANJA 2.0 to evaluate GHG emissions and nitrogen (N) and phosphorus (P) losses from dairy farms. NUTGRANJA 2.0 is an empirical mass-balance model developed in order to simulate the main transfers and flows of N and P through the different stages of the dairy farm management. A model sensitivity test was carried out to explore some of the sensitivities of the model in relation to the simulation of GHG and N emissions. This test indicated that both management (e.g. milk yield per cow, annual fertiliser N rate) and site-specific factors (e.g. % clover (Trifolium) in the sward, soil type, and % land slope) had a large effect on most of the model state variables studied (e.g. GHG and N losses).     

Ecodesign methods focused on remanufacturing

Understanding the product's ‘end-of-life’ is important to reduce the environmental impact of the products' final disposal. When the initial stages of product development consider end-of-life aspects, which can be established by ecodesign (a proactive approach of environmental management that aims to reduce the total environmental impact of products), it becomes easier to close the loop of materials. The ‘end-of-life’ ecodesign methods generally include more than one ‘end-of-life’ strategy. Since product complexity varies substantially, some components, systems or sub-systems are easier to be recycled, reused or remanufactured than others. Remanufacture is an effective way to maintain products in a closed-loop, reducing both environmental impacts and costs of the manufacturing processes. This paper presents some ecodesign methods focused on the integration of different ‘end-of-life’ strategies, with special attention to remanufacturing, given its increasing importance in the international scenario to reduce the life cycle impacts of products.     

Headwater streams: neglected ecosystems in the EU Water Framework Directive. Implications for nitrogen pollution control

The European Union Water Framework Directive (WFD) aims to achieve the “good status” of waters by 2015, through monitoring and control of human impacts on “bodies of surface water” (BSWs), discrete elements for quality diagnosis and management. Headwater streams, however, are frequently neglected as they are not usually recognised as BSW. This poses limitations for the management of river catchments, because anthropogenic impacts on headwaters can constrain the quality of downstream rivers. To illustrate this problem, we compared nitrate levels and land use pressures in a small agricultural catchment with those recorded in the catchment in which it is embedded (Ega), and in the Ebro River Basin (NE Spain) comprising both. Agriculture greatly influenced water nitrate concentration, regardless of the size of the catchments: R² = 0.91 for headwater catchments (0.1–7.3 km²), and R² = 0.82 for Ebro tributary catchments (223–3113 km²). Moreover, nitrate concentration in the outlet of a non-BSW small river catchment was similar to that of the greater downstream BSW rivers. These results are of interest since, despite representing 76% of the length of the Ega catchment hydrographical network, only 3.1% of the length of the headwater streams has been identified as BSWs. Human activities affecting headwater streams should therefore be considered if the 2015 objective of the WFD is to be achieved.