Fetal chromosome analysis: Screening for chromosome disease?

The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocenteses performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25–34 years of age, in whom all heritable diseases were excluded (group Q. The risk of unbalanced chromosome abnormality in group A (women with elevated risk) is significantly higher than in group B + C (women without elevated risk) (relative risk 2–4). Women with a known familial translocation and women 40 years or more have a relative risk of 5–7 of having an unbalanced chromosome abnormality compared with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications for amniocentesis should therefore be reconsidered. Because it must be considered impractical and ethically wrong to limit amniocentesis to the two mentioned real high risk groups, and illogical to continue the present policy, which is not based on clearcut evidence, the possibility of offering amniocentesis to all who want it, is discussed. Screening for chromosome disease in all pregnancies is not without problems, but may be reasonable in some localities.     

Global environmental change: the contribution of social science research to policy in the UK

Research into global environmental change in the United Kingdom, has sought to influence public policy. It has also served to refashion the social sciences themselves, forcing them to consider sustainability as a dimension of all social and economic behaviour. This paper describes the way in which the principle of enhanced sustainability might become a point of reference in social science research. It discusses, some of the lessons that have been learned from the Global Environmental Change Programme and then considers the relationship between this work and research on the environment undertaken within the natural sciences.This paper was presented as a keynote delivery at the Global Forum '94 Conference Towards a sustainable Future: Promoting Sustainable Development, Manchester, UK.     

Linking the environmental and social agendas

Summary In the United Kingdom there is no obvious connection between the Department of the Environment and the Home Office, nor indeed with the Department of Social Security. Yet crime rates are rising and social surveys reveal a drop in support for the institutions of governance-moral, legal and political. Other evidence clearly shows that the income and security of the very poor are declining in relation to the better off. There may well be a link between environmental deprivation, poverty and social alienation. This is not an area where heretofore any British Government has noticeably directed its energies. The UK response to the Rio Agenda 21 contains a proposal to create a Citizens' Environmental Initiative, designed ostensibly to bring sustainability to the grass roots. It now appears that this is to be a largely cosmetic exercise of grant aid to worthy local causes. It does not appear to have addressed significantly the opportunity of linking environmental and social agendas via the medium of locally promoted sustainable development. Yet the divergence efficiency and equality of treatment lies at the heart of the contemporary environmental debate. Proposals to price resource depletion and polluting emissions penalize the poor in the name of environmental efficiency. Unless there is an explicit intertwining of efficiency and equity doctrines, the cause of sustainability is doomed to self-inflicted defeat. Ecological taxation offers a solution, so long as the proceeds promote the cause of social as well as environmental justice.The address was delivered at the Global Forum '94 Academic Conference Towards a Sustainable Future: Promoting Sustainable Development Manchester UK (Fig. 1).     

Methods for the transcervical collection of fetal cells during the first trimester of pregnancy

Before termination of pregnancy, four techniques for retrieving fetal cells transcervically were investigated: uterine lavage, endocervical lavage, cytobrush and mucus aspiration. The yield of fetal cells in these samples was studied and found to be somewhat better after uterine lavage. A preliminary assessment of the safety of mucus aspiration was carried out before transcervical chorionic villus sampling (CVS) in continuing pregnancies. No difference in outcome to a control group having only CVS was found.     

Ecology of the metahaline pool of Di Zahav,Gulf of Elat,with notes on the siphonocladacea and the typology of near-shore marine pools

The hydrobiology of a metahaline near-shore pool, at Di Zahav on the Sinai coast of the Red Sea, has been studied. Salinity of the pool fluctuates between 45 and 60, and winter temperatures are as low as 10°C. The shore consists partly of beach rock, some of it still in statu nascendi. Serpulid reef-boulders also occur, covered with typical marine species. Three siphonocladacean green algae (Siphonocladus rigidus, Dictyosphaeria cavernosa, and Valonia utricularis), form abundant crusts on the boulders. Several peculiar faunal elements are discussed. Traits in common with the Suez Canal biota are discerned. A typology for the nearshore pools of Sinai is proposed.     

First trimester studies of A fetus at risk for triose phosphate isomerase deficiency

A first trimester prenatal diagnosis was offered to a mother whose child had died of haemolytic anaemia and multisystem disease caused by TPI deficiency. The deficiency state was characterized by greatly reduced TPI activity in both erythrocytes and peripheral lymphocytes. Specific activity of TPI in trophoblast homogenates from the index fetus was about 30 per cent less than in the controls, but the heat stability test showed overlap. These data were confirmed in uncultured and cultured amniotic cells, where glycolytic intermediate concentrations DHAP, GAP and FDP fell in the range of controls. These results suggested that the fetus was a TPI heterozygote. This prenatal prediction was confirmed by RBC and haematological studies at birth.     

Collagen biosynthesis in cell culture from chorionic villi

After chorionic villus biopsy of human placenta, cell cultures were propagated with Ham's F10 medium or Eagle's minimum essential medium (MEM). It was possible to study the morphology of the cells by transmission electron microscopy (TEM) after a special culture of the cells in a collagen gel. The cells embedded in a collagen gel were able to contract the gel and to organize collagen fibres, as fibroblast cultures do. TEM showed vacuolization and well-developed cisternae of the endoplasmic reticulum, especially in the case of MEM culture. The aim was to determine whether cells cultivated from early placenta were able to synthesize enough collagen for a metabolic study. A high level of collagen biosynthesis could be quantified. Types I and III collagen can be determined which is useful for studying the abnormalities of collagen synthesis in suspected cases of osteogenesis imperfecta or Ehlers–Danlos type IV syndrome. The hydroxylation of lysine can also be studied with respect to Ehlers–Danlos type VI syndrome. Moreover, these cells, in contrast to fibroblast cultures, made it possible to study the biosynthesis of type IV collagen.     

First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk

Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (3-HAD) deficiency was performed in a family at risk. The diagnosis of an affected fetus was carried out by enzyme assay in cultured chorionic villus cells.     

A simple electrophoretic procedure for fetal diagnosis of β-thalassaemia due to short deletions

This study describes three couples a t risk for homozygous β-thalassaemia in which one of the partners carried a short deletion β-thalassaemia defect. Detection of short deletions in trophoblast DNA was accomplished by the very simple procedure of non-denaturing polyacrylamide gel electrophoresis. This method may be applied to detect β-thalassaemia mutations due to deletion or addition of more than two nucleotides.     

Prenatal diagnosis of congenital diaphragmatic hernia: A retrospective analysis of 28 cases

In a retrospective analysis of 28 cases of fetal diaphragmatic hernia, overall mortality was 86 per cent, but fell to 70 per cent when multiple anomalies were excluded. Congenital heart disease constituted the majority of associated anomalies. The incidence of an abnormal karyotype was 10·5 per cent, but rose to 20 per cent when only fetuses with multiple anomalies were included. Polyhydramnios, which occurred in 75 per cent, was a poor predictor of fetal outcome. The same applied to the intrathoracic position of the fetal stomach. In all four survivors, diaphragmatic hernia was diagnosed beyond 32 weeks of gestation.