Prenatal diagnosis,fetal pathology,and cytogenetic analysis of mosaic trisomy 14

While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth.     

Amniotic fluid fibrinolytic system in fetal neural tube defects

Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abnormalities. In pregnancies complicated with anencephaly and spina bifida no significant difference was demonstrated for alpha-1-antitrypsin, alpha-1-antichymotrypsin and urokinase. Plasminogen was significantly lower (p < 0.02) and plasmin significantly higher (p < 0.001) than levels from normal amniotic fluid. Alpha-2-macroglobulin, fibrinogen, FDP-D and FDP-E were detected only in pregnancies complicated with anencephaly and spina bifida.     

Influence of Methodology and Assumptions on Reported National Carbon Flux Inventories: An Illustration from the Canadian Forest Sector

The Intergovernmental Panel on Climate Change (IPCC) has developed guidelines to standardize the international reporting of greenhouse gas emissions and removals by signatory nations of the UN Framework Convention on Climate Change. With regard to forest sector carbon fluxes, the IPCC guidelines require only that those fluxes directly associated with human activities (i.e., harvesting and land-use change) be reported. In Canada, the Carbon Budget Model of the Canadian Forest Sector (CBM-CFS2) has been used to assess carbon fluxes from the entire forest sector. This model accounts for carbon fluxes associated with both anthropogenic and natural disturbances, such as wild fires and insects. We combined model results for the period 1985 to 1989 with additional data to compile seven different national carbon flux inventories for the forest sector. These inventories incorporate different system components under a variety of seemingly plausible assumptions, some of which are encouraged refinements to the default flux inventory described in the IPCC guidelines. The resulting estimated net carbon fluxes varied from a net removal of 185,000 kt carbon per year of the inventory period to a netemission of 89,000 kt carbon per year. Following the default procedures in the IPCC guidelines, while using the best available national data, produced an inventory with a net removal of atmospheric carbon. Adding the effect of natural disturbances to that inventory reversed the sign of the net flux resulting in a substantial emission. Including the carbon fluxes associated with root biomass in the first inventory increased the magnitude of the estimated net removal. The variability of these results emphasizes the need for a systems approach in constructing a flux inventory. We argue that the choice of which fluxes to include in the inventory should be based on the importance of these fluxes to the overall carbon budget and not on the perceived ease with which flux estimates can be obtained. The results of this analysis also illustrate two specific points. Even those Canadian forests which are most free from direct human interactions—forests in which no commercial harvesting occurs—are not in equilibrium, and their contribution to national carbon fluxes should be included in the reported flux inventory. Moreover, those forest areas that are subject to direct management are still substantially impacted by natural disturbances. The critical effect of inventory methodology and assumptions on inventory results has important ramifications for efforts to “monitor” and “verify” programs aimed at mitigating global carbon emissions.