Prenatal detection of monosomy 21 mosaicism

We report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected.     

Rapid karyotyping in prenatal diagnosis: A comparative study of the ‘pipette method’ and the ‘in situ’ technique for chromosome harvesting

Rapid karyotyping in the second and third trimesters has important implications for the management of pregnancies at risk. From September 1985 to March 1992, 735 amniotic fluid samples sent to our laboratory for rapid karyotyping from 64 different diagnostic centres of the Federal Republic of Germany were included in a comparative study on harvesting for chromosome analysis using the ‘pipette method’ or the ‘in situ’ technique. The average time between preparation of the amniotic fluid and verbal notification of the analysed karyotype was 5·41 days. The ‘pipette method’ needed on average 4·65 days, and the ‘in situ’ technique 5·97 days. In comparison with other more invasive techniques available for rapid karyotyping such as cordocentesis and placental biopsy, amniocentesis and subsequent chromosome harvesting using the ‘pipette method’ and/or the ‘in situ’ technique proved very useful and efficient. The overall incidence of chromosome aberrations was 15·3 per cent. The high rate of structural chromosome aberrations and uncommon aneuploidies found in our investigation (12 per cent) indicates that for rapid karyotyping in the second and third trimesters, conventional cytogenetic techniques cannot be replaced by faster techniques based on fluorescent in situ hybridization on interphase cells in the near future.     

Metallakkumulation in Moosen: Standörtliche und regionale Randbedingungen des Biomonitoring von Luftverunreinigungen

Goal and Scope

Several studies show that the concentration of metals in mosses depends not only on metal deposition but also on factors such as moss species, canopy drip, precipitation, altitude, distance to the sea and the analytical technique used. However, contrasting results have been reported and the interpretation of the spatial variability of the metal accumulation in mosses remains difficult. In the presented study existing monitoring data from the European Heavy Metals in Mosses Surveys together with surface data on precipitation, elevation and land use are statistically analysed to assess factors other than emissions that have an influence on the metal accumulation in the mosses.

Main Features

Inference statistics and Spearman correlation analysis were applied to examine the association of the metal accumulation and the distance of the monitoring sites to the sea as well as the altitude. Whether or not significant differences of the metal loads in the mosses exist at national borders was examined with help of the U-test after Mann and Whitney. In order to identify and rank the factors that are assumed to have an influence on the metal uptake of the mosses Classification and Regression Trees (CART) were applied.

Results

No clear tendency could be derived from the results of the inference statistical calculations and the correlation analyses with regard to the distance of the monitoring site to the sea and the altitude. According to the results of the CART-analyses mainly the moss species, potential emission sources around the monitoring sites, canopy drip and precipitation have an effect on the metal bioaccumulation. Assuming that each participating country followed strictly the manual for sampling and sample preparation the results of the inference statistical calculations furthermore suggest that in most cases different techniques for digestion and analysis bias the measurements significantly.

Discussion

For the first time a national monitoring data base consisting of measurement data and metadata as well as surface information on precipitation, land use and elevation was applied to examine influence factors on the metal bioaccumulation in mosses. The respective results mirror existing knowledge from other national studies to a large extend, although further analyses are necessary to affirm the findings. These analyses should include data from other national monitoring programmes and should additionally be carried out with other decision tree algorithms than CART.

Conclusions

The local variability in the metal concentration in mosses can be uncovered in terms of predictors or underlying hidden causes by using CART. Ideally, such an approach should be applied across the whole of Europe. This will only be feasible if all participating countries provide additional information about site characteristics as currently is done in for example the German moss surveys.

Recommendations

The UNECE Metals in Mosses Survey experimental protocol should be improved in order to reduce the observed influences, to enhance standardisation, and to strengthen the quality control. This implies the integration of sampling site describing metadata into the assessment. Furthermore, basis research is needed to test the hypothesis concerning moss species-specific accumulation of depositions.

Perspectives

Provided that the presented results hold true in further analyses correction factors should be applied on the moss data in order to get the depicted spatial patterns and temporal trends of metal bioaccumulation unbiased. Such factors should be calculated for natural landscape units or ecoregions that are homogeneous with regard to climate, vegetation and altitude.     

On the Curing of ESO/MTHPA/DEH 35 and ESO/MTHPA/DEH 35/TIN

Journal of Polymers and the Environment - Epoxidized soybean oil (ESO) compounds were cured with methyl tetrahydrophthalic anhydride (MTHPA) as hardener and 2,4,6-tris (dimethylaminomethyl) phenol...