Prenatal diagnosis of mosaicism for triploidy and trisomy 13

Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd.     

EFFECTS OF ADJACENT AGRICULTURAL ACTIVITIES AND WATERSHED CHARACTERISTICS ON STREAM MACROINVERTEBRATE COMMUNITIES1

Benthic macroinvertebrate communities in streams adjacent to cornfields, streams where cows had unrestricted access, and reference locations without agriculture were compared to examine the effects of local land use and land use/land cover in the watershed. At each local site, macroinvertebrates and a variety of habitat parameters were measured upstream, adjacent, downstream, and farther downstream of the local land use. A geographic information system (GIS) was used to calculate drainage basin area, land use/land cover percentages in each basin, and the distance from sample sites to the stream source. Three‐way analysis of covariance (ANCOVA) tests with date, site type, and sampling location as main effects were used to explore differences in macroinvertebrate metrics using median substrate size, percent hay/pasture area, and stream depth as covariates. The covariates significantly improved model fit and showed that multiple contributing factors influence community composition. Local impacts were greatest at sites where cows had access, probably because of sedimentation and embeddedness in the substrate. Differences between the upstream and the adjacent and downstream locations were not as great as expected, perhaps because upstream recolonization was reduced by agricultural impacts or because of differences in the intensity or proximity of agriculture to riparian areas in the watershed. The results underscore the importance of both local and watershed factors in controlling stream community composition.     

Trophoblast-like cells sorted from peripheral maternal blood using flow cytometry: A multiparametric study involving transmission electron microscopy and fetal dna amplification

Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male fetuses. At the ultra-structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter-villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y-specific sequences in two out of three samples of sorted TLCs. These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non-invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities.     

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.     

Land Degradation Monitoring in Namibia: A First Approximation

This paper presents development of a first approximation of a Namibian, national level, land degradation monitoring system. The process involved a large number of stakeholders and led to the definition of four primary indicators that were regarded as related to land degradation in Namibia: population pressure, livestock pressure, seasonal rainfall and erosion hazards. These indicators were calculated annually for the period 1971–1997. Annual land degradation risk maps were produced for the same period by combining the indicators. A time series analysis of results generated by indicators was undertaken at two sites. The analysis revealed a general trend towards an increased land degradation risk over the period 1971–1997. A decrease in annual rainfall and an increase in livestock numbers caused this negative trend at one site, while decreased annual rainfall and increased human population were the causes at a second site. Evaluation of resulting maps through direct field observations and long-term monitoring at selected study sites with different conditions relevant for the indicators defined, is an essential next step.     

Equity-focused health impact assessment: A tool to assist policy makers in addressing health inequalities

In Australasia (Australia and New Zealand) the use of health impact assessment (HIA) as a tool for improved policy development is comparatively new. The public health workforce do not routinely assess the potential health and equity impacts of proposed policies or programs. The Australasian Collaboration for Health Equity Impact Assessment was funded to develop a strategic framework for equity-focused HIA (EFHIA) with the intent of strengthening the ways in which equity is addressed in each step of HIA. The collaboration developed a draft framework for EFHIA that mirrored, but modified the commonly accepted steps of HIA; tested the draft framework in six different health service delivery settings; analysed the feedback about application of the draft EFHIA framework and modified it accordingly. The strategic framework shows promise in providing a systematic process for identifying potential differential health impacts and assessing the extent to which these are avoidable and unfair. This paper presents the EFHIA framework and discusses some of the issues that arose in the case study sites undertaking equity-focused HIA.     

Climate change in mountain regions: a marginal issue?

Summary Mountain regions comprise one-fifth of the world's land surface. They are home to a tenth and important in the lives of half of humankind. Yet mountains are often regarded as physically, politically and economically marginal; their importance has only recently been globally recognized. The potential impacts of climate change in mountain regions will vary considerably between different types of regions. These are briefly described, as an introduction to an evaluation of the potential impacts with regard to agriculture, forestry, water resources, tourism, energy, transport and health. It is concluded that climate change cannot be considered a marginal issue and that the ability of mountain and downstream people to adapt and respond in the long term will require attention to the maintenance and use of local knowledge and cooperative social networks, as well as considerable scientific research.Dr Martin Price obtained his Ph.D from the University of Colorado at Boulder, following a first degree at the University of Sheffield and an MSc from the University of Calgary, Canada. He is currently the Programme Leader for the Mountain Regions Programme at the Environmental Change Unit at the University of Oxford. This paper was presented at the Global Forum '94 Academic Conference and it represents a revision of an article by the author in Beniston (1994).     

Exencephaly in autosomal dominant brachydactyly syndrome

Exencephaly was diagnosed at 17 weeks in a 27-year-old primigravida with abnormalities of the hands and a family history suggestive of autosomal dominant brachydactyly and clinodactyly. In this family there was also a history of ‘anencephaly’. To our knowledge, this is the first report on the association of exencephaly and autosomal dominant brachydactyly. As the relationship between hand and cranial anomalies is well established, we suggest that this association in our case could be due to a defect in the same gene.