Fetal nuchal oedema and antenatal diagnosis of trisomy 10

Trisomy 10 was detected at amniocentesis undertaken following observation of fetal nuchal oedema. This is the first report of fetal trisomy 10 in association with nuchal oedema. The physical features of fetal trisomy 10 are described.     

S-100 protein and neuron-specific enolase in amniotic fluid as markers of abdominal wall and neural tube defects in the fetus

The aim of this study was to determine whether there is increased leakage of neuron-specific enolase (NSE) and S-100 protein into amniotic fluid in pregnancies with neural tube defects, since both these proteins are produced by neural tissue, and to compare the value of these substances for detecting such defects with that of the more conventional techniques of alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) gel electrophoresis. Amniotic samples from 25 mid-pregnancies (15–17 weeks' gestation) with neural tube defects (14 with open spina bifida and 11 with anencephaly) and from seven mid-pregnancies with abdominal wall defects were compared with a control material consisting of 80 amniotic fluid samples from 80 consecutive mid-pregnancy amniocenteses, with normal karyotypes and AFP concentrations. All of the above cases of abnormalities were primarily detected through increased AFP levels in the amniotic fluid. Amniotic fluid samples from 13 pregnancies with fetuses with autosomal chromosomal abnormalities and seven amniotic fluid samples contaminated with blood were also included in the investigation. It is concluded from the results that the conventional AFP assay combined with AChE gel electrophoresis is the best method for screening amniotic fluid for neural tube defects and defects of the abdominal wall. Neither NSE nor S-100 assay alone proved to be superior for the detection of these cases in mid-trimester amniotic fluid. The S-100 assay, however, could give additional information in cases where AChE gel electrophoresis is not decisive; for example, in samples contaminated with blood.     

Antenatal diagnosis of a de novo paracentric inversion of chromosome 11

A de novo paracentric inversion of chromosome 11 identified through antenatal diagnosis is described along with long-term follow-up information on the child and discussion of reported experiences with de novo inversions.     

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.