First-trimester fetal sex determination in maternal serum using real-time PCR

An Erratum has been published for this article in Prenatal Diagnosis 22(13) 2002, 1241. Fetal sex prediction can be achieved using PCR targeted at the SRY gene by analysing cell-free fetal DNA in maternal serum. Unfortunately, the results reported to date show a lack of sensitivity, especially during the first trimester of pregnancy. Therefore, determination of fetal sex by maternal serum analysis could not replace karyotype analysis following chorionic villus sampling. A new highly sensitive real-time PCR was developped to detect an SRY gene sequence in maternal serum. Analysis was performed on 121 pregnant women during the first trimester of pregnancy (mean gestational age: 11.8 weeks). Among them, 51 had at least one previous male-bearing pregnancy. Results were compared with fetal sex. SRY PCR analysis of maternal serum was in complete concordance with fetal sex. Among the 121 pregnant women, 61 were bearing a male fetus and 60 a female fetus. No false-negative results were observed. Furthermore, no false-positive results occurred, even though 27 women carrying a female fetus during the current pregnancy had at least one previous male-bearing pregnancy. This study demonstrates that a reliable, non-invasive sex determination can be achieved by PCR analysis of maternal serum during the first trimester of pregnancy. This non-invasive approach for fetal sex prediction should have great implications in the management of pregnant women who are carriers of an X-linked genetic disorder. Prenatal diagnosis might thus be performed for male fetuses only, avoiding invasive procedures and the risk of the loss of female fetuses. Copyright © 2001 John Wiley & Sons, Ltd.     

Evolution of environmental impact assessment as applied to watershed modification projects in Canada

This article reviews the application of environmental impact assessment (EIA) procedures and practices to three watershed modification projects situaled in western Canada. These ventures were justified for accelerating regional economic development, and cover the period during which public concerns for protecting the environment rapidly made their way into the national political agenda. An historical account and analysis of the situation, therefore, seems desirable in order to understand the development of EIA processes, practices, and methodologies since the start of construction of the first project in 1961. This study concludes that there has been good progress in predicting and evaluating environmental and related social impacts of watershed modification proposals. However, a number of obstacles need to be overcome before EIA can firmly establish itself as an effective planning tool. These difficulties include jurisdictional confusions and conflicts, division of authority and responsibility in designing and implementing appropriate mitigative and monitoring measures, lack of tested EIA methodologies, and limited availability of qualified human resources. A number of conclusions and suggestions are offered so that future watershed modification proposals may be planned and implemented in a more environmentally sustainable fashion. These include: (1) EIA processes must be completed before irrevocable decisions are made. (2) Any major intrusion into a watershed is likely to impact on some major components of the ecosystem(s). (3) Mitigation costs must form part of the benefit-cost analysis of any project proposal. (4) Interjurisdictional cooperation is imperative where watersheds cross political boundaries. (5) The EIA process is a public process, hence public concerns must be dealt with fairly. (6) The role of science in the EIA process must be at arms length from project proponents and regulators, and allowed to function in the interest of the protection of the environment and public health and safety. The views expressed here are the authors’ own and do not necessarily reflect those of FEARO and/or other government agencies and officials involved in the review of these projects.     

Slow-fast dynamics in Wonderland

Taking Wonderland—a simple model of demographic, economic and environmental interactions—as our artificial world, we illustrate the use of geometric singular perturbation theory in environmental demoeconomics. The theory of slow-fast dynamics helps us to gain new insights into the system's behaviour and enables one to reduce the inherent unpredictability of a “natural catastrophe” in Wonderland. Though we cannot predict the exact date of such an “environmental crash”, we can state the specific demographic, economic and environmental constellations of our artificial world at which the sustainability of nature becomes endangered.     

Field scale variability of cadmium and zinc in soil and barley

CaCl₂-extractable soil Cd and Zn contents have been suggested as a measure of bioavailability. To investigate the ability of this measure to reflect spatial patterns of Cd and Zn concentrations in barley (Hordeum vulgare L.) in an arable field, plant and soil samples were taken from a 0.5 ha area sandy soil contaminated with Cd and Zn. Cd and Zn contents in barley and yield were spatially variable. Yield was low, which may have been caused by Zn toxicity or atrazine turnover. For Cd, CaCl₂-extractable soil contents explained only 17% of the variation in Cd contents in grain, and for Zn no significant correlation was observed. Nevertheless, surface plots of CaCl₂-extractable soil contents and contents of barley grain illustrated their corresponding spatial patterns. Despite the poor linear correlation between CaCl₂-extractable soil-Cd and grain-Cd, a stochastic model for long term behaviour of Cd in field soils predicted observed variability in Cd contents of barley grain well from spatial variability of soil pH and organic matter content. The probabilistic model predicted behaviour of Cd in terms of probability, and was more appropriate than the deterministic approach.     

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.