Fluorescent in situ hybridization (FISH): A new application in the delineation of true vs. pseudomosaicism in prenatal diagnosis

Metaphase chromosomes and interphase nuclei from nine amniotic fluid cultures were studied with fluorescence in situ hybridization (FISH). The samples were initially analyzed with routine G-banding and were diagnosed as having true mosaicism (five patients) or pseudomosaicism (four patients). In our study, FISH analysis could provide additional information to distinguish pseudo– from true mosaicism by allowing interphase studies and analysis of an increased number of metaphase spreads. These results suggest a multilinear origin of ‘in situ’ colonies of cells.     

A fetal cystic neck mass associated with maternal tuberous sclerosis. Case report and literature review

Tuberous sclerosis is a single gene autosomal-dominant disorder, characterized by multiple hamartoma formation. It shows a wide variability of expression. Prenatal diagnosis by means of a DNA or biochemical marker is not yet possible. Ultrasound offers the only way to detect possible antenatal hamartoma formation, which is most commonly found in the central nervous system, the renal system, and the heart. We report a case of fetal involvement that appears unique because of the unusual location of a tumour in the neck of the fetus.     

Asymptomatic carrier of two CFTR mutations: Consequences for prenatal diagnosis?

The cystic fibrosis (CF) gene has been observed to have the highest frequency of mutations in the Caucasian population. Prenatal diagnosis can now be performed with a high degree of accuracy since the identification of most of the gene's mutations, as well as the characterization of intragenic markers. However, the observation of a distribution of clinical phenotypes increases the need to identify a mild phenotype and avoid false-negative diagnosis. By screening most of the exons of the CFTR gene, we showed that a supposed obligate carrier of CF was in fact an asymptomatic affected woman.     

Prenatal diagnostic procedure for leukocyte adhesion deficiency

Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder which leads to recurrent severe infections due to impaired leukocyte functions. The disorder is caused by an absence or deficiency of leukocyte cell adhesion molecules (LeuCAMs) on the leukocyte membranes. The diagnosis is established with monoclonal antibodies against the LeuCAMs. We have carried out a prenatal diagnostic procedure by means of cordocentesis in a mother who was 20 weeks pregnant and had previously given birth to a child with LAD. This previous child had the severe form of LAD with undetectable mRNA for the β chain, the common subunit of the LeuCAMs. We found that the fetal granulocytes expressed the LeuCAMs normally. At birth, the baby was physically normal and showed no signs of impaired leukocyte functions.     

The Problems of Fishermen in the Southern Aral Sea Region

The main objective of this paper is the presentation of water scarcity and water quality problems of fishery and fishermen in the southern Aral Sea region Kazakhstan. We tried in the past to inform interested people about our suggestions how to rehabilitate the situation, how to produce relatively enough fish for the functioning of local fish processing industry and to give people jobs, but we were unable so far to convince decision makers about innovations needed. It is essential therefore to reiterate some of the well-known problems of the region, called the Aral Sea crisis, but we concentrate mostly on the problems for the fishermen. While we do this, we understand, however, that the problem requires solution within the concept of a socioeconomic sustainable development for which we suggest the development of a decision support system based upon a computer simulation model providing optimal solutions.     

Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; Report of two cases

Two cases of harlequin ichthyosis were successfully diagnosed prenatally by fetal skin biopsy. The aborted fetuses were later confirmed to be afflicted with this very unusual skin disease. Both families had a previous history of harlequin ichthyosis. In performing the biopsy, it was found that amniotic fluid cytology can also be very helpful in the diagnosis of this kind of severe ichthyosis. With regard to these families, the disease may have been transmitted in an autosomal dominant fashion, and not in a recessive manner as is commonly believed.     

Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome

Three fetuses with TAR (thrombocytopenia with absent radii) or TAR variant syndrome were found to be thrombocytopenic during the third trimester of the pregnancy. These findings indicate that fetal blood sampling, besides ultrasonography, skeletal radiographs, or even fetoscopy, may indeed contribute to the prenatal diagnosis of TAR syndrome, and thus may help in differentiating TAR syndrome from other syndromes with malformations of the upper limbs.     

Failure to detect fetal obstructive uropathy by second trimester ultrasound

The prenatal diagnosis, management and outcome of an hereditary obstructive uropathy is presented. Serial ultrasonic assessment of the fetal urinary tract was carried out from the early second trimester onward. Slight bilateral hydronephrosis as a first sign of obstructive uropathy was only established as late as 30 weeks of gestation. On the basis of weekly ultrasound scans, a conservative approach was adopted. In view of fetal maturity, labour was induced at 36 weeks resulting in the vaginal delivery of a male infant with moderate bilateral hydronephrosis. Neonatally, anuria developed due to bilateral obstruction of the ureters as a result of increasing bladder wall hypertrophy due to urethral valves. A bilateral uretero-cutaneostomy was carried out. The infant so far develops normally, and renal function is normal for age. Women at risk for fetal obstructive uropathy should have ultrasonic monitoring throughout pregnancy.     

Metabolic diversity in epibiotic microflora associated with the Pompeii wormsAlvinella pompejana andA. caudata (Polychaetae: Annelida) from deep-sea hydrothermal vents

Specimens of alvinellid polychaetes (Alvinella pompejana Desbruyères and Laubier, 1980 andA. caudata Desbruyères and Laubier, 1986) and their tubes were sampled from deep-sea hydrothermal vents at 13°N from the manned submersible Nautile during the Hydronaut cruise (October to November 1987) on the East Pacific Rise. Samples were subjected to bacterial analysis aboard the mother ship Nadir to detect bacteria involved in the nitrogen and sulphur cycles, in non-specific heterotrophic processes, and displaying resistance to selected heavy metals. Cultures were incubated at different temperatures under atmospheric and in situ (250 atm) pressures. Bacterial growth was observed in enrichment cultures for most metabolic types screened. Heavy-metal-resistant bacteria were also detected in many samples. No filamentous bacterial form was observed in the cultures. The results demonstrate a high metabolic diversity in episymbiotic flora, indicating that the worm (A. pompejana orA. caudata), its tube and its epiflora represent a complex micro-ecosystem.     

Characterisation of HTO diffusion properties by an in situ tracer experiment in Opalinus clay at Mont Terri

A long-term single borehole diffusion experiment using tritiated water as tracer was carried out in Opalinus clay, an argillaceous rock formation that is accessible at the Mont Terri Underground Research Laboratory, situated in the Swiss Jura. The tracer was diluted in reconstituted formation water and introduced into a packed-off section of a borehole located in saturated rock. Pressure in this interval was maintained equal to the pore pressure of the surrounding rock in order to prevent any hydraulic gradient around the borehole and to avoid advective transport processes. The evolution of the tracer concentration in the injection system was monitored over time. After 1 year of diffusion, the claystone surrounding the interval was retrieved by overcoring the whole borehole and packer system, and by an adjacent oblique borehole. Compressed air was used as drilling fluid to reduce rock disturbances. The recovered overcore was sampled along profiles perpendicular to the borehole wall with a view to determining the tracer-concentration profiles in the rock. To avoid further evaporation of tritiated water, subsamples were immediately transferred into polyethylene bottles and disaggregated by adding a known amount of tracer-free water. Fifteen profiles were determined and showed a decreasing tracer concentration with distance into the rock. The pore-water contents were constant along those profiles, confirming that only very little water was lost during overcoring operations. The evolution of tritium-tracer concentration in the injection system over time and in situ profiles were interpreted with a 3-D numerical simulation of the experiment. That allowed for the identification of the transport parameters (orthotropic diffusion tensor and porosity) by minimising the relative quadratic error between the experimental and simulated data. The fitting is good and the results are consistent with data obtained on drill-core samples. The result of tritiated water is discussed regarding (1) the potential effect of mechanical and/or chemical disturbances around the injection borehole and (2) the specific behaviour of tritiated water.