Congenital nephrosis in low-risk pregnancies

Congenital nephrosis is an autosomal recessive disorder requiring neonatal renal transplant for survival. The postnatal diagnosis rests upon the electron microscopic evaluation of the epithelial foot processes and basal membrane of the glomeruli. The prenatal diagnosis can be suspected in the presence of a positive family history with an amniotic fluid (AF) alpha-fetoprotein level greater than 5 standard deviations (SD) above the population mean accompanied by a negative AF acetylcholinesterase, absent haemoglobin F, and an unremarkable fetal sonographic examination. We reviewed our series of seven cases of congenital nephrosis fulfilling the above criteria; four cases had negative family histories, and in two cases the diagnosis of congenital nephrosis was further supported by the presence of elevated AF albumin concentrations. We conclude that (1) the prenatal diagnosis of congenital nephrosis is feasible in a low-risk population, and (2) an elevated AF albumin concentration may represent an additional marker for the diagnosis of congenital nephrosis, even though false-negative results have been reported.     

First-trimester diagnosis of duodenal stenosis associated with oesophageal atresia

Duodenal stenosis associated with oesophageal atresia was diagnosed by ultrasound at 12 weeks' gestation. The diagnosis was made by recognition of a double bubble sign which was more pronounced when a vaginal transducer was used. Post-abortion autopsy confirmed the diagnosis. Oesophageal and duodenal obstruction in this case had no effect on the amount of amniotic fluid or the alpha-fetoprotein concentration since swallowing and subsequent utilization of amniotic fluid do not occur before 12 weeks of gestation.     

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.     

Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after trans-abdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99·1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2·0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2·3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.     

Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling

We present a remarkable chain of events in which percutaneous umbilical cord sampling was performed in an attempt to clarify a situation of possible fetal sex chromosome mosaicism in an amniotic fluid culture and led to the discovery that the mother herself had a 45,X/46,XX/ 47.XXX chromosome constitution. This may have simply represented the chance concurrence of pseudo-mosaicism in the amniotic fluid culture of a woman with an abnormal sex chromosome constitution, but it is also possible that the 45,X colony was maternal in origin. Although clearly a most unusual circumstance, the possibility should be kept in mind when termination of a pregnancy is being considered because of apparent mosaicism in a prenatal diagnostic study.