Hyperechogenic fetal bowel and Down syndrome. Results of a French collaborative study based on 680 prospective cases

Hyperechogenic fetal bowel is prenatally detected by ultrasound during the second trimester of pregnancy in 0.1% to 1.8% of foetuses. It has been described as a normal variant and has often been associated with severe diseases, notably Down syndrome. The aim of the present study was to determine the risk of trisomy 21 in a prospective study of 680 fetuses with hyperechogenic foetal bowel. Karyotyping was performed on amniotic cells in 632 cases, and outcome was known in 655 cases. A 2.5% risk of Down syndrome and a 1% risk of other severe chromosomal anomalies were observed. Hyperechogenicity was isolated in 11/17 Down syndrome cases, and associated with other ultrasound anomalies in all seven cases of severe chromosomal anomalies. In conclusion, fetal bowel hyperechogenicity indicates a risk of chromosomal anomalies ten-fold higher than that expected on the basis of maternal age, therefore justifying invasive procedures. Copyright © 2002 John Wiley & Sons, Ltd.     

Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5

We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings. Copyright © 2005 John Wiley & Sons, Ltd.     

Between pregnancy biological variability of first trimester markers of Down syndrome: implications for screening in subsequent pregnancies

In a group of 149 women who had undergone routine first trimester screening using fetal nuchal translucency thickness (NT) and maternal serum free β-hCG and pregnancy associated plasma protein-A (PAPP-A) in two consecutive pregnancies the within person between pregnancy biological variability of these markers has been assessed. For fetal NT there was no correlation between NT MoM in the first and second pregnancy (r=0.0800). For maternal serum free β-hCG MoM a significant correlation was observed (r=0.4174) as was also found for PAPP-A MoM (r=0.3270). The implications for such between pregnancy marker association is that women who have an increased risk of Down syndrome in their first pregnancy are 1.5–2 times more likely to repeat this event in their next pregnancy. This observation may be useful in counselling women in the first trimester screening of a subsequent pregnancy. Copyright © 2001 John Wiley & Sons, Ltd.     

Production, Consumption and the World Summit on Sustainable Development

At the World Summit on Sustainable Development (WSSD), world leaders agreed that eliminating unsustainable production and consumption is one of the three overriding objectives of sustainable development. Achieving that objective should have been a major priority for the WSSD Plan of Implementation. Increases in consumption and production over the past decade were largely responsible for the worsening environmental and social trends. Unfortunately, the negotiators of the Plan paid insufficient attention to the lessons from 10 years of discussions about the concepts, the available policies and tools and their effectiveness, the impacts of those policies on developing countries, and the political commitment of countries in an era of globalization. Despite a promising proposal for a new ten-year work programme aimed at bridging the gap implementing the Agenda 21 commitments from Rio, Summit negotiators produced barely more than a muted echo of recommendations from the past which have yet to be taken seriously enough by the world's leaders in a comprehensive intergovernmental strategy. In the ten-year review of progress to achieve sustainable production and consumption (SPAC), governments quickly skipped past the critical work of examining why things are getting worse, avoiding the task of identifying the obstacles (which in some cases were themselves) and in turn avoiding the commitment to time-bound measurable targets. If nothing else, the WSSD demonstrated that a global strategy to achieve SPAC will come not from a UN consensus of world leaders but from a strategic alliance of responsible governments, civil society and others with a vision beyond the next election cycle.     

21世纪住区建设

面对世界发展趋势和中国建设高潮期,21世纪住宅建设需体现可持续发展,引入信息技术和新材料等高新技术,适应居住生活的发展。本文概述了当前世界发展趋势和国家住宅建设目标,住宅建设面临的科技问题,着重论述21世纪住区建设的规划设计原则。