Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH

Amniotic fluid (AF) levels of 17-hydroxyprogesterone (17OHP) and testosterone (T) were determined at 16–17 weeks in 17 pregnancies at risk for CAH and results compared to 75 normal controls. The fetus was predicted to be unaffected in 12 cases on the findings of normal AF levels of both 17OHP and T and the latter allowed a correct prediction of fetal sex in all instances. HLA typing confirmed normality in 12 cases revealing 5 carriers, 5 homozygous normal and 2 indeterminate. Steroid levels of the 2 groups were similar. Three fetuses were predicted to be CAH affected on unambiguously high levels of 17OHP and T (in female only). HLA typing was in agreement, and the diagnosis was confirmed in 2 abortuses and a female newborn by physical and hormonal studies. In the last 2 cases AF levels of OHP and T were normal but HLA (A/B/C) genotypes were identical to the CAH affected siblings. Normal physical and hormonal findings in the 2 aborted fetuses would exclude the possibility of an in utero virilizing form of CAH. The discrepancy could be explained on the basis that the fetuses had an allelic form of 21-hydroxylase deficiency or on the basis of recombination (not fully tested). It is concluded that a fully informative prenatal diagnosis of CAH should not rely entirely on HLA typing but on hormonal studies.     

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.     

Prevalence and clinical significance of anticardiolipin antibodies in pregnancies complicated by parvovirus B19 infection

Anticardiolipin antibodies were measured in 60 pregnant women with acute parvovirus B19 infection. Test results for eight (13.3 per cent) women were positive for anticardiolipin antibody. Six of these eight women became negative later, yielding a prevalence of anticardiolipin antibodies of 3.3 per cent (2/60) 6 months after acute parvovirus B19 infection. Anticardiolipin antibody positivity was not associated with an increased risk of abortion, fetal death, or maternal complications. This study suggests that there is an elevated frequency of anticardiolipin antibodies in pregnant women with acute parvovirus B19, probably representing an epiphenomenon. However, this is not associated with an adverse maternal or perinatal outcome.