Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk

In 40 pregnancies at risk for the Hurler syndrome 13 affected fetuses were detected by the demonstration of an α-L -iduronidase deficiency and an increased level of ³⁵S-sulphate incorporation. The diagnoses were confirmed by the analysis of fetal tissues and/or cultured fetal skin fibroblasts. Microassays for α-L -iduronidase, using phenyl α-L -iduronide and more recently 4–methyl-umbelliferyl α-L -iduronide, enabled a reliable diagnosis to be made within 15 to 18 days after amniocentesis. ³⁵S-sulphate incorporation has been a valuable adjunct in cases with a low (heterozygote) enzyme activity.     

An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line

We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.     

Prenatal diagnosis of Freeman–Sheldon syndrome (whistling face)

The diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.     

Detection of fetal HLA-DQα sequences in maternal blood: A gender-independent technique of fetal cell identification

The objective of this study was to detect fetal HLA-DQα gene sequences in maternal blood. HLA-DQα genotypes of 70 pregnant women and their partners were determined for type A1. We specifically sought couples where the father, but not the mother, had genotype A1. In 12 women, maternal blood samples were flow-sorted. Candidate fetal cells were isolated and amplified by using PCR primers specific for a paternal HLA-DQα A1 allele. Fetal HLA-DQα A1 genotype was predicted from sorted cells; amniocytes or cheek swabs were used for confirmation. Six of twelve sorted samples had amplification products indicating the presence of the HLA-DQα A1 allele; 6/12 did not. Prediction of the fetal genotype was 100 per cent correct, as determined by subsequent amplification of amniocytes or cheek swabs. We conclude that paternally inherited uniquely fetal HLA-DQα gene sequences can be identified in maternal blood. This system permits the identification of fetal cells independent of fetal gender, and has the potential for non-invasive prenatal diagnosis of paternally inherited conditions.     

Assessment and management of fetal agenesis of the corpus callosum

Prenatal counselling for fetal agenesis of the corpus callosum is difficult as the prognosis until now has been so uncertain. We have reviewed the current world English literature to provide the best probabilistic information for prospective parents. In total, there are 70 cases where the diagnosis was made prenatally. The diagnosis of apparently isolated agenesis of the corpus callosum (in the absence of other sonographically detectable anomalies) appears to carry an excellent prognosis, with an 85 per cent chance of a normal developmental outcome and a 15 per cent risk of handicap. Fetal karyotyping is recommended as there is a 1 in 10 risk of aneuploidy. If other anomalies are detected prenatally, the outcome is very poor. Termination of pregnancy is advised in these circumstances.     

Attitudes to prenatal screening,diagnosis and research among pregnant women who accept or decline an alpha-fetoprotein test

The aim of the study was to describe the opinion of pregnant women who had accepted or declined an alpha-fetoprotein (AFP) test, not only on AFP screening in general, but also on whether every pregnant woman should be offered amniocentesis (AC)/chorionic villus sampling (CVS) and an ultrasound scan for fetal malformations. An additional aim was to describe pregnant women's attitudes concerning continued research in the prenatal field. The study was performed as a questionnaire study in two regions over a 1-year period from 1 October 1988 to 30 September 1989. Results are based on answers from 3331 women who had taken an AFP test and 336 women who had declined the offer of a test. A total of 79 per cent of the women thought that an AFP test, 70 per cent that an ultrasound scan for fetal malformations, and 26 per cent that AC or CVS should be offered to all pregnant women. Fifty-nine per cent of the women were positive towards continued research in the prenatal field. Women who had had an AFP test were generally much more positive towards screening and research than women who had declined, who were generally against. Women who had left school without a high school degree were on average more positive towards the screening issues than women who had this degree. In conclusion, the results obtained in this study strongly suggest that women's attitudes are very dependent on how the prenatal screening programme is already organized in their local area.     

Pastoral farmland habitat diversity in south-east Ireland

In this study, habitat surveys were undertaken on 50 grass-based farms in SE Ireland and data digitised onto aerial photography. Additional data i.e. stocking rates, and participation (or otherwise) in the Irish Rural Environment Protection Scheme (REPS) were collected and analysed as possible explanatory variables for farm habitat composition.Results indicated that approximately 14.3% of the land area of sampled farms comprised of semi-natural habitat types, a proportion substantially greater than has been reported for many other European countries. The most frequently recorded semi-natural habitats included, field boundaries, scrub, and deciduous and riparian woodlands.Multivariate analysis of farm habitat configuration showed a strong dichotomy between dairy and non-dairy farming systems. Habitats such as intensively managed grassland and built ground were closely associated with dairy-based enterprises. In contrast, the incidence of other habitat types was associated with non-dairy and/or REPS participating enterprises. The ecological quality of field boundaries as assessed by the Field Boundary Evaluation and Grading System (FBEGS) Index was significantly greater on dairy, compared with dry-stock farms.This dichotomy in farm habitat composition is not reflected within current Agri-Environment (AE) policy. Integration of locally important drivers of habitat diversity into the design and implementation of AE policy, is integral to the successful performance of AE schemes.     

Critical perspectives of sustainable development research and practice

Sustainable development has been intensely debated for more than twenty years, but real progress of our societies to become more sustainable is very slow. Therefore this special issue provides a forum for critical perspectives of Sustainable Development Research and Practice. The papers are grouped into three clusters: a. Sustainability Science, b. Economic Problems and c. Corporate Contributions to Sustainable Development.Although a single special issue cannot address the entire array of issues pertaining to progress of sustainability related research, the selected papers highlight special aspects of sustainability research either due to their theoretical contributions or because they report on valuable empirical evidence. The main goal of sustainability research should be to contribute to our understanding of sustainability problems and to develop and help to implement solutions to solve them. This can be described as the relevance of sustainability research. A precondition to gain relevance is the rigor of sustainability science: it has to be based on solid scientific principles and methods. Additionally it has to be regarded that Sustainable Development is dynamic and that it has both normative and practical aspects. It is concluded that sustainability science and practice should be based upon these four central aspects: rigor, relevance, normative aspects and dynamic     

Use of coatings to minimise acid emissions during ceramic tile firing

The manufacture of traditional ceramic products (ceramic tiles, roof tiles, and bricks) is often associated with the emission of F, Cl, and S compounds during the firing stage. According to the literature, fluorine emissions can be reduced by adding CaCO₃ to the raw materials mixture used in fabricating these products. However, data available to the authors indicate that this procedure, which has been successfully applied in manufacturing structural ceramics (roof tiles and bricks), is ineffective in ceramic tile manufacture and modifies tile end properties.This paper examines the possibility of reducing such emissions by applying coatings of alkaline-earth carbonates on to the ceramic tile bottom surface to retain the acid compounds emitted during tile firing. The effectiveness of MgCO₃, CaCO₃, SrCO₃, and BaCO₃ coatings for retaining these acid emissions was studied, using the evolved gas analysis (EGA) technique with a TG-DSC-FTIR-QM instrument.The SrCO₃ coating was found to provide the greatest retention, showing that SO₂ and HCl were retained more efficiently than HF. The presence of fluorides, chlorides, and sulphates of Ca, Sr, and Ba was verified in the respective fired coatings, confirming the existence of chemical reactions between the emitted acid compounds and the coating materials at high temperature.