An Integrated Assessment of Climate Change and the Accelerated Introduction of Advanced Energy Technologies - An Application of MiniCAM 1.0

We report results from the application of an integrated assessment model, MiniCAM 1.0. The model is employed to explore the full range of climate change implications of the successful development of cost effective, advanced, energy technologies. These technologies are shown to have a profound effect on the future magnitude and rate of anthropogenic climate change. We find that the introduction of assumptions developed by a group of ‘bottom-up’ modelers for the LEESS scenarios into a ‘top-down’ model, the Edmonds-Reilly-Barns Model, leads to ‘top down’ emissions trajectories similar to those of the LEESS. The cumulative effect of advanced energy technologies is to reduce annual emissions from fossil fuel use to levels which stabilize atmospheric concentrations below 550 ppmv. While all energy technologies play roles, the introduction of advanced biomass energy production technology is particularly important. The consideration of all greenhouse related anthropogenic emissions, and in particular sulfur dioxide, is found to be important. We find that the consideration of sulfur dioxide emissions coupled to rapid reductions in carbon dioxide emissions leads to higher global mean temperatures prior to 2050 than in the reference case. This result is due to the short-term cooling impact of sulfate aerosols, which dominates the long-term warming impact of CO₂ and CH₄ in the years prior to 2050. We also show that damage calculations which use only mean global temperature and income may be underestimating damages by up to a factor of five. Disaggregating income reduces this to a factor of two, still a major error. Finally, the role of the discount rate is shown to be extraordinarily important to technology preference.     

Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation

Prenatal diagnosis of heterozygous achondroplasia at 25 weeks is described. First-level fetal ultrasonography demonstrated short long bones of the lower limbs. Second-level examination showed a large head; shortened femur, fibula, and tibia; a ‘trident’-shaped hand; and an abnormal facial profile.     

Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.     

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Second-trimester cancer antigen 125 and Down's syndrome

This study explores if assay of cancer antigen 125 (CA 125) in maternal serum might aid the detection of Down's syndrome in the second trimester of pregnancy. CA 125 levels were determined retrospectively in stored maternal serum samples from ten Down's syndrome pregnancies and 78 controls matched for gestational and maternal age. In addition, second-trimester amniotic fluid samples from nine Down's syndrome and 109 unaffected pregnancies were analysed for CA 125. Maternal serum CA 125 values for Down's syndrome pregnancies were lower, with the median being 0.72 multiples of the unaffected population median. The medians for affected and unaffected pregnancies did not differ significantly and there was a considerable overlap in the range of values of cases and controls. The distribution of amniotic fluid CA 125 levels for Down's syndrome pregnancies resembled that for controls. From our present results, we could not find an association between Down's syndrome and second-trimester maternal serum or amniotic fluid CA 125 levels.     

Chorionic villus sampling—short-term versus long-term culture in a subtle 2; 18 translocation

Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture.