Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid

A woman in the 32nd week of pregnancy was referred for investigation because of fetal abnormalities, including an abdominal wall defect, detected by ultrasonography. In view of the increased risk of chromosome abnormality, amniocentesis was performed to enable informed decisions about the management of the pregnancy and delivery to be taken. Cells from the liquor were inoculated into standard lymphocyte culture medium and incubated for 72 h. Slides with a high mitotic index and good quality metaphases, comparable to those from a blood culture, were obtained after harvesting. Cytogenetic analysis showed the karyotype to be 46,XY,—14,+t(13ql4q), which is consistent with Patau's syndrome. This technique appears to be an option for rapid karyotyping in cases of abdominal wall defect, where a chromosomal abnormality is suspected.     

Empowering women. The solution to a global crisis

Norway's Prime Minister Gro Harlem Brundtland holds a medical degree from the University of Oslo and a Master's degree in Public Health from Harvard University. She served as Norway's Minister of the Environment during 1974-79, and was elected to the Norwegian parliament in 1977. Brundtland is currently chairperson of the World Commission on Environment and Development with ten years of experience as a physician and twenty years as a politician. An edited version of her keynote address to the 1994 International Conference on Population and Development is presented. The Minister's experience has taught her that improved life conditions, a greater range of choices, access to unbiased information, and true international solidarity are the signs of human progress. She stresses the need to empower people, educate them, care for their health, and provide them with equal opportunity to achieve economically. Available combined resources need to be used more efficiently through a reformed and better coordinated UN system, policies must be changed, the role and status of women strengthened, safe, comprehensive reproductive health services provided, and measures taken to achieve a balance between population size and sustainable development in keeping with available global resources.     

Maternal serum inhibin levels in second-trimester down's syndrome pregnancies

Maternal serum inhibin levels were measured in 19 second-trimester pregnancies affected by fetal Down's syndrome and 95 unaffected control pregnancies matched for gestational age. A statistically significant elevation was found in the affected pregnancies compared with the controls (Wilcoxon rank sum test: one-tail P=0·02). The median level in the cases was 1·3 times that in the controls, with 95 per cent confidence limits of 0·9–1·9. Although the inhibin levels were unrelated to those of alpha-fetoprotein and unconjugated oestriol in the same samples, there was a statistically significant correlation with human chorionic gonadotropin. This together with the relatively small elevation in cases suggests that inhibin would be of limited value in maternal serum screening for Down's syndrome.     

Maternal age-specific risks for trisomies at 9—14 weeks' gestation

This study provides data on the incidence of fetal trisomies 21, 18, and 13 at 9–14 weeks' gestation in women aged 35–45 years and estimates of maternal age-specific risks in women aged 20–45 years. Our data from 5814 singleton pregnancies undergoing first-trimester karyotyping for the sole indication of maternal age ⩾ 35 years were combined with those from two previous reports and the incidence of the trisomies was calculated from a total of 15 793 pregnancies. Comparison of incidences at 9–14 weeks' gestation with published data at 15–20 weeks' gestation and in livebirths demonstrated that at birth the maternal age-specific incidence of trisomy 21 is 33 per cent lower than at 15–20 weeks' gestation and 54 per cent lower than at 9–14 weeks' gestation. Furthermore, the relative frequency of trisomies 18 and 13 decreases from 30 per cent at 9–14 weeks to 22 per cent at 15–20 weeks and 14 per cent at birth.     

The 48,XXYY syndrome: A case detected by maternal serum alpha-fetoprotein screening

A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.     

Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization

In this paper we describe the use of five-colour fluorescence in situ hybridization for prenatal diagnosis of aneuploidy using uncultured amniotic fluid cells. The analysis is based on ratio mixing of dual-labelled probes and digital imaging for the detection and visualization of five different probes specific for the five target chromosomes, 13, 18, 21, X, and Y. A retrospective blind analysis of 30 coded uncultured amniotic fluid samples correctly detected fetal sex and five trisomy 21 cases. Multicolour fluorescence in situ hybridization used in this way allows rapid and simultaneous detection of the most frequent aneuploidies.     

Ecoprofit-Styria-prepare Thirteen pollution prevention case studies in the Styrian industry

The paper focuses upon the organization of a federal state-funded pollution prevention project in the Styrian industry. The project includes 13 companies from the textile, pulp and paper, machine building, wood working and printed circuit board manufacturing industries, covering most of the sectors and sizes in the Styrian industry. It started in January 1994 and will last for one year. It will demonstrate the possibilities of pollution prevention and the need for further research work. This project will make use of the methods and tools that were refined in the Austrian Prepare project. As a first step, a systematic balance of all the inputs and outputs of a company is made, after which the weak points and inefficiencies of material and energy use are identified and the options for improvements, both economical and ecological, are defined. Consequently, modifications in products and production lead to a situation with less waste and emissions. The preliminary lessons from these projects are presented: as a rule, the utilities (consumption of process materials and water, cleaning, energy, preparatory and finishing steps) are treated as black boxes and usually represent a considerable optimization potential. In these areas especially there is usually a lack of information and coordination as well as a need for a systematic and comprehensive approach. Leadership in the company and creative consultants are needed for starting lasting successful pollution prevention projects.