Introduction of early amniocentesis to routine prenatal diagnosis

With growing awareness of the problems associated with prenatal cytogenetic diagnoses after CVS, attempts have been made to provide early amniocentesis as an alternative to CVS. Since 1990, at our clinic the gestational age limit for routine diagnostic amniocentesis has been successively lowered, first to 14 and then to 13 weeks of gestation. Thus, 811 prenatal diagnoses were performed after early amniocentesis at 13 weeks (n = 217) and at 14 weeks of gestation (n = 594). No problems were encountered. Culture failure was never observed in the early samples. Using the criteria ‘number of colonies’ and ‘culture duration until harvest’, early samples taken at 14 weeks did not differ significantly from the controls after standard amniocentesis performed at 15 and 16 weeks, respectively, whereas a minority of samples taken at 13 weeks experienced some delay in culturing. However, in each group at least 85 per cent of samples led to a diagnosis fulfilling our standard criteria of a safe diagnosis (at least 20 metaphases of at least five colonies from at least one primary culture after trypsinization) within 15 days. Some differences between the different groups can be recognized: culture duration of less than 11 days tends to be increasing after standard amniocentesis, whereas long culture duration (more than 20 days) is more often associated with early amniocentesis. However, this trend is only minimal and did not result in an increased risk of missing a diagnosis.     

Phenogenetic Analysis of Pygmy Wood Mouse (Apodemus uralensis Pall.) Populations in the Zone of the Eastern Ural Radioactive Trace (EURT)

Monitoring of A. uralensis populations in Kamenskii raion, Sverdlovsk oblast, in 1992–2002 and in Kaslinskii raion, Chelyabinsk oblast, in 2000–2001 revealed an increase in the proportion and diversity of minor morphogenetic aberrations and abnormalities in the structure of the cranium along the axis of the Eastern Ural Radioactive Trace (EURT). The samples from the southern and northern parts of the EURT (contaminated with ⁹⁰Sr to 500 and 4 Ci/km², respectively) were characterized by directed deviations from the control with respect to the frequencies of phenes of nonmetric cranial traits and an increase in the level of their fluctuating asymmetry in young females, which is indicative of epigenetic rearrangements in populations living in a radioactive environment.     

Chromosome aberrations as indicator of technogenic impact on conifer stands

The level of chromosome aberrations at different stages of mitosis has been studied in the seed sprout meristem of four conifer species growing in the Southern Urals in areas differing in the kind and degree of industrial pollution. The results provide evidence for the adverse effect of pollution on the chromosomal machinery of these species. With respect to environmental quality assessment, the Scots pine is the most sensitive indicator species among conifers growing in the Southern Urals and analysis of chromosome aberrations in anaphase-telophase cells is most effective among the cytogenetic methods tested.     

A study on genotoxicity of textile dyeing industry effluents from Rajshahi,Bangladesh, by the Allium cepa test

Textile dye effluents are believed to be toxic as they might exert various harmful effects on living organisms including genotoxicity. These effluents are the main source of direct and continuous input of pollutants into the aquatic ecosystems. In this study, dye effluents from a local silk dyeing industry were analysed for their genotoxic potential by the Allium cepa genotoxicity test. The A. cepa test is characterised as a genotoxicity test where the roots of A. cepa are grown in different concentrations of the test material. The macroscopic results clearly showed that the toxicity of the dye effluents prompted A. cepa root growth inhibition, and this effect increased with higher concentrations of the effluents. At the cellular level, no dividing cells were found at higher concentrations such as 60%, 80% and 100% of the effluents. However, at a lower concentration of 20%, dividing cells were identified, although the mitotic index was much lower than that of the control. Microscopic analysis showed that the dye effluents induced chromosomal aberrations at significant levels. Taken together, these results revealed that the textile dyeing industry effluents are toxic to eukaryotic cells and these dyes have genotoxic properties that can potentially lead to cancer development and adverse health conditions.     

Assessment of Genotoxicity of Lignin Substances as Risk Factors for Aquatic Ecosystems

The genotoxicity of lignin substances (LSs) isolated from biologically purified wastewaters of the pulp and paper industry was studied in experiments on Baikal endemic mollusks and corn. Both toxicity and mutagenic activity of LSs were revealed, with their levels depending on the physicochemical characteristics of LSs, the test organism, and experimental conditions. These results provide evidence that LSs discharged into water bodies create a genetic hazard to their ecosystems.     

Genotoxicity assessment of human peripheral Lymphocytes induced by thallium(I) and thallium(III)

Thallium is a non-essential metal with a wide range of industrial uses. However, thallium is also a potential pollutant with high potential toxicity to humans. In the present study, we analyzed and compared the cellular and genotoxic effects of thallium in two main oxidation states by applying chromosome aberration assays to human peripheral lymphocytes. We observed that thallium(I) sulfate reduced the mitotic index at all tested concentrations (0.5, 1, 5, 50 and 100 μg/mL), whereas thallium(III) chloride was toxic at concentrations ≥1 μg/mL. Thallium(I) and thallium(III) treatment significantly increased structural chromosomal aberrations, with and without gaps, and increased the percentage of aberrant cells without gaps. Furthermore, satellite associations and numerical chromosomal aberration tests showed significant differences at a few of the tested concentrations. The satellite association test is related to aneuploidy. Thallium salts increased satellite associations when hyperploid cells were observed. Our results indicated that the two oxidation states of thallium induced toxicity in vitro – i.e. cyto/genotoxic (clastogenic and aneuploidogenic) effects.     

Analysis of Local Dandelion (Taraxacum officinales.l.) Cenopopulations from Radioactively Contaminated Zones

Local dandelion (Taraxacum officinales.l.) populations were studied in the areas of the Eastern Ural Radioactive Trace and the floodplain of the Techa River in its upper reaches. In impact plots, the density of soil and plant cover contamination with ⁹⁰Sr and ¹³⁷Cs exceeded the background level by factors of 13–440 and 2–500, respectively; the radiation load exceeded the background level by factors of 1.5 to 45. The seed progeny of plants from these plots was characterized by a high proportion of abnormal seedlings and an increased level of chromosome aberrations in meristem cells. In some years, variation in the seedling viability, growth rate, and developmental rate in these plots exceeded the reaction norm of plants from the background plot, demonstrating both stimulation and inhibition of growth processes. The response of seeds to acute irradiation at high challenging doses varied depending on the level of background radiation in the plots.     

Unusual case of a fetus with congenital cystic adenomatoid malformation of the lung associated with trisomy 13

Congenital cystic adenomatoid malformation of the lung can be detected with antenatal ultrasound as hyperechogenic areas in the fetal chest. Associated extrapulmonary malformations as well as chromosomal aberrations are described as very rare. We present a case report of a fetus in the 23rd week of gestation who showed in the course of a routine ultrasound screening a large number of malformations: holoprosencephaly, arrhinencephaly, cleft palate, CCAM type III of the right inferior pulmonary lobe, ventricular septal defect and bilateral clubfeet. Chromosome analysis confirmed the suspicion of trisomy 13. The present case shows how important it is—even with malformations that are rarely accompanied by associated anomalies and which have a very good prognosis—to carry out a directed diagnosis including a fetal karyotyping. Copyright © 2003 John Wiley & Sons, Ltd.     

Assessment of the in vivo genotoxicity of a new formulation of Bacillus thuringiensis var israelensis SH-14

Biological control agents have become a useful alternative for the reduction of the use of chemical insecticides. LABIOFAM (Cuba) is developing a new formulation of a biolarvicide that possesses as active biological agent Bacillus thuringiensis var israelensis serotype H14. In order to evaluate the genotoxicity of this new formulation, an in vivo battery test was used: micronucleus (MN), chromosome aberrations (CAs), and sperm morphology (SM) assays. A dose of 6.45?×?10⁸ spores was administered per animal via oral administration. Bone marrow cells were collected 24?h after a two day treatment for the MN assay, and 24?h after a unique treatment for the CA assay, using cyclophosphamide as the positive control. Sperm cells were collected at 5 weeks from the first of five administrations for the SM test, using acrylamide as positive control. Bacillus thuringiensis var israelensis serotype H14 failed to show either a significative increase of micronucleated polychromatic erythrocytes, chromosomal aberrations, or sperm abnormalities. Acute oral administration of a high dose of Bacillus thuringiensis var israelensis serotype H14 did not produce mutagenic effects in bone marrow or sperm cells.     

The effect of thiacloprid formulation on DNA/chromosome damage and changes in GST activity in bovine peripheral lymphocytes

The potential genotoxic effect of thiacloprid formulation on bovine peripheral lymphocytes was evaluated using the comet assay and the cytogenetic endpoints: chromosome aberrations (CAs), sister chromatid exchanges (SCEs) and micronuclei (MNi). Whole blood cultures were treated with the insecticide at concentrations of 30, 60, 120, 240 and 480 μg mL^?1 for 24, 48 h and/or 2 h of incubation. A statistically significant increase in the frequency of DNA damage, as well as in unstable chromosome aberrations (% breaks) were found after exposure to the insecticide at concentrations ranging from 120 to 480 μg mL^?1 (P < 0.05, P < 0.01, P < 0.001). For the detection of stable structural chromosome aberrations (e.g., translocations) and numerical aberrations by the FISH method, three whole chromosome painting probes for bovine chromosomes 1, 5 and 7 (BTA1, BTA5 and BTA7) were used in our experiments. We observed numerical aberrations, but without any statistical significance. Regarding the sister chromatid exchanges, no significant elevation in the SCE frequencies was found after 24-h exposure to the insecticide. A dose-related response in the SCE induction was obtained in bovine cultures after the prolonged time of exposure (48 h) to thiacloprid formulation at concentrations ranging from 120 to 480 μg mL^?1 in each donor (P < 0.05, P < 0.01), which was associated with a reduction of the PI (P < 0.05, P < 0.01). The insecticide failed to produce MNi; however, a significant reduction of CBPI was observed. Using real-time PCR, a decrease in the expression of bovine glutathione S-transferase M3 (GSTM3) was detected at the lowest dose. The higher concentrations of thiacloprid formulation caused an increase in the mRNA expression.