Trophoblast-like cells sorted from peripheral maternal blood using flow cytometry: A multiparametric study involving transmission electron microscopy and fetal dna amplification

Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male fetuses. At the ultra-structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter-villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y-specific sequences in two out of three samples of sorted TLCs. These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non-invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities.     

Disposal of Mine Wastes Containing Pb and Zn Near the Ocean: An Assessment of Associated Environmental Implications in the Arctic

The past two decades have witnessed an increase in the exploration for, and development of, mineral resources at Arctic latitudes. Such effort has resulted in the commencement of production at a number of different localities in close proximity to the ocean. Since proximity to a source of transportation for the conveyance of concentrates to the market is a primary requirement governing the economic decisions for the mine to proceed, it is logical that ore deposits near a coastline are primary targets for development.

Closely tied to coastal mining developments is the need to dispose of tailings and waste rock in the most economical manner. Prior to the advent of heightened public awareness and environmental concern, and the enactment of pollution legislation, disposal practices were largely based upon convenience. Currently, however, proposed disposal and operating practices receive closer scrutiny, with a view to providing adequate protection for aquatic resources and habitat. This paper summarizes some of the features of three Arctic mines, wastes from which enter the marine environment, and compares the disposal practices used at each to measures of environmental change as indicated by metal concentrations in various media.     

Environmental auditor qualifications: Meeting new,rigorous demands for quality audits

“Ah, Mr. Cahill, I wonder if you could come back to the auditor's team room. It seems one of your auditors has fallen asleep for the second time this week. I know you had a grueling trip getting here, but this is embarrassing to everyone”. So went an audit I led some time ago. It was not a fun experience, and it has left some scars. There has been much discussion lately in the profession about certifying environmental (health and safety) auditors against certain performance criteria. But how does one evaluate for such important measures as physical stamina?. This article discusses the qualifications that environmental auditors should have if they are to lead or conduct a quality audit. It becomes evident after reviewing these expectations that certifying auditors through a traditional written examination might ignore some of the most important skills an auditor should possess, especially in working with managers throughout an organization. Before certifying organizations progress too far down the restrictive written-exam road, they should determine how these other skills are to be assessed. No amount of book learning can overcome the drawbacks of a poor or combative interviewer or even an exhausted auditor.     

Assessment of environmental changes in the Orinoco River delta

Major anthropogenic driven changes in the hydrologic and sedimentation patterns of the Orinoco River have had an impact on environmental conditions in the delta. The abrupt water flow reduction from 3,600 to 200 m³ s^–1 in one of its major distributaries resulting from dam construction forced its transformation from a fresh-water body into a tidal channel with an increase in salinity level (as far as 100 km upstream) and with well-mixed water at the mouth and estuarine connection to the Paria Gulf. Three different sectors along this distributary can be identified (indicated by the Na/Cl ratio in the water). As a result, noticeable changes have occurred in the mangrove community which moved about 60 km further upstream. The changes have also promoted the formation of new islands of sediment progradation at the mouth of this distributary, where successional colonization and species replacement by different species of grasses and mangroves take place. Electronic Publication     

Decision support systems for stored water quality: 2. An example application

The components of an environmental decision support system (EDSS) were outlined in Part 1 of this paper. Here, an example application is given using a range of data from the database in order to assess the utility of one specific model chosen from the modelbase: the one-dimensional thermal stratification model, EDD1. The model is applied to a range of lake types worldwide.     

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 John Wiley & Sons, Ltd.