The nuchal translucency and the fetal heart: a literature review

In this overview the current knowledge of the relationship between an increased nuchal translucency (NT) measurement and fetal heart structure and function in chromosomally normal fetuses is reviewed. Relevant pathophysiological theories behind the increased NT are discussed. Fetuses with an increased NT have an increased risk for congenital heart disease (CHD) with no particular bias for one form of CHD over another. This risk increases with increasing NT measurement. Although the NT measurement is only a modestly effective screening tool for all CHD when used alone, it may indeed be effective in identifying specific CHD “likely to benefit” from prenatal diagnosis. The combination of an increased NT, tricuspid regurgitation and an abnormal ductus venosus (DV) Doppler flow profile, is a strong marker for CHD. A fetal echocardiogram should be performed at 20 weeks' gestation in fetuses with an NT ≥ 95th percentile but < 99th percentile. When the NT measurement is ≥ 99th percentile, or when tricuspid regurgitation and/or an abnormal DV flow pattern is found along with the increased NT, an earlier echocardiogram is indicated, followed by a repeat scan at around 20 weeks' gestation. The resultant increased demand for early fetal echocardiography and sonographers with this special expertise needs to be planned and provided for. Copyright © 2009 John Wiley & Sons, Ltd.     

Genomic instability in the bank vole: Population-ecological aspects

Chromosome aberration frequency in relation to population dynamics and demographic parameters was studied for six years in a bank vole population in the Middle Urals. The frequencies of structural chromosome aberrations, chromatid gaps, aneuploidy, and polyploidy in males and females and in animals of different ages did not differ significantly. In the breeding period, the frequencies of structural aberrations and changes in chromosome number increased in the somatic cells of voles. Highly significant differences between the levels of chromosome instability in different years manifested a tendency toward a negative correlation with population size.     

Two unbalanced segregation products due to a maternal t(7;16)inv(16)

We report a prenatal case of a maternally inherited abnormal chromosome 16, originally interpreted as a pericentric inversion only, but after family studies re-interpreted as a pericentric inversion (16) accompanied by an unbalanced (7;16) translocation. Because of the inversion 16 and an elder son with developmental delay and craniofacial dysmorphic features, in the past karyotyped as 46,XY, the chromosomes 16 of the mother and son were carefully re-examined. Using a whole chromosome 16 paint and sub-telomere probes of 16p and 16q, the karyotype of the mother was shown to be 46,XX,inv(16)(p11.2q23.2).ish t(7;16)(q36;p13.3)inv(16). Subsequently one chromosome 16 of the elder son appeared to be a der(16)t(7;16)(q36;p13.3). This is probably the result of a meiotic crossover between the chromosomes 16 in the mother. The prenatal karyotype was finally interpreted as 46,XY,inv(16)(p11.2q23.2).ish der(16)t(7;16)(q36;p13.3)inv(16). This is the same cytogenetic imbalance as his elder brother: a partial trisomy of chromosome 7 (q36→qter) and a partial monosomy of chromosome 16 (p13.3→pter). Copyright © 2001 John Wiley & Sons, Ltd.     

Assessment of micronuclei and chromosomal anomalies of five biocompatible materials in mice

In vivo genetic toxicology tests measure direct DNA damage or the formation of gene or chromosomal mutations, and are used to predict mutagenic and carcinogenic potential of compounds for regulatory purposes. These adverse genotoxic effects may be manifested in the form of gene mutations, structural chromosomal aberrations (CA), recombination, and numerical changes. The present investigation was carried to assess genotoxic effects of five different implantable biomaterials developed in different laborataries of Sree Chitra Tirunal Institute of Medical Sciences and Technology. All biomaterials were developed for clinical applications. CA and micronuclei (MN) studies are biomarkers of genotoxicity testing. Leachants from the extract of biomaterials are capable of inducing structural and numerical chromosomal changes. The studies were conducted in Swiss albino mice with the physiological saline extract of materials together with cyclophosphamide and physiological saline as positive and negative controls. Animals were administered intraperitoneally (ip) with a single injection of test, positive (cyclophosphamide), and negative (physiological saline) control and sacrificed after 24 or 48?h. Bone marrow cells were collected for CA and MN assays. Data showed that all five biomaterials did not significantly exert genotoxic effects. Hence, the study indicates that these biomaterials do not induce any chromosomal anomalies.     

Ecotoxicological assessment of metalworking fluids using the Allium cepa test procedure

Metalworking fluids (MWFs), which have a long history of use in industry and are in constant and ever-increasing use in parallel with advancements in mechanisation, are emulsions prepared with water. MWFs prepared as a 1/20 (MWF: water) mixture in practice, contain a large amount of water within their structure, and may become an aquatic toxic mixture in an ecosystem. In this study, half maximal effective concentration (EC₅₀) values for MWFs were determined using the Allium cepa test, an accepted ecotoxicological biomonitor, and test solutions were prepared (1/250, 1/500 and 1/1000). Depending on the MWF ratio at each concentration, a decrease in the mitotic index (MI), irregularities in the phase distribution and aberrations in the chromosomes were observed. When the amount of MWF in the water increased, chromosomal abnormalities such as stickiness were observed to occur; whereas abnormalities such as c-mitosis, fragments, bridges, vagrants and micronucleus increased as the amount of the MWF decreased. Over a second 24-h period, it was observed that values, in particular MI, showed a tendency to return to normal.