New estimates of down syndrome risks at chorionic villus sampling,amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population

Current measures of livebirth prevalence of Down syndrome are derived from data obtained up to 20 years ago, before the introduction of the prenatal diagnostic tests amniocentesis and chorionic villus sampling (CVS). For women aged 36–52 years, but who were not tested prenatally, we proposed to make a direct estimate of current livebirth prevalence of Down syndrome. We could also determine prevalence at the time of CVS and amniocentesis in women of the same age undergoing prenatal testing. Differences in these prevalences allow an estimation of the relative loss of Down syndrome during pregnancy. In Victoria, Australia, we identified 3041 women having CVS, 7504 having amniocentesis, and 13 139 having no test. Smoothed regression estimates of age-specific livebirth prevalence were found to be higher than in the early studies. The estimate of spontaneous loss was 17 per cent between the time of CVS and amniocentesis, and 18 per cent after the time of amniocentesis. The latter figure is lower than previous estimates and may be explained by a greater likelihood of a Down syndrome fetus surviving to be liveborn, given the modern approach to early obstetric intervention. These current risk estimates of livebirth may be useful updates for genetic counselling, but perhaps more importantly, may be used as precise maternal age-related risk figures, necessary in the design and implementation of prenatal screening programmes for Down syndrome.     

The impact of prenatal diagnosis on the occurrence of chromosome abnormalities

From the public health point of view, several formal attempts have been made to measure the impact of prenatal diagnosis (PND) on the incidence of Down's Syndrome (DS), but the results have varied widely. The impact of PND (reduction in the birth rate of chromosomally abnormal neonates) is related to utilization rates but quantitative estimates of this have not been established. In a three-year (1981–1983) total population study from Queensland, Australia, we present results to measure the impact of a voluntary PND programme on the birth incidence of DS, and also other chromosomally abnormal births. Utilization rates for the PND service were 15·5 per cent in that population of mothers 35 years and over. Numbers and rates of all cases of chromosomal abnormalities are presented, subclassified by type of diagnosis–-either by PND or by clinical diagnosis after birth. For the total population, 7·3 per cent of cases of DS were detected prenatally, and 15·4 per cent of all chromosome abnormalities. (A method for measuring the impact of PND is described.) Using this in conjunction with our demographic data, we estimate that with a 15 per cent utilization rate of PND by older mothers, 14 per cent of DS births can be prevented in this age group, or a 5 per cent overall reduction can be achieved if mothers of all ages are considered. One index–-the ratio of the percentage of DS births which are preventable compared with the population utilization rates of PND–-has potential for widespread use. Queensland data for this ratio is 0·34, a figure consistent with that from other studies. Thus a 3·5 per cent drop in the overall DS birth rate may be expected for each 10 per cent increase in the utilization rates of PND for mothers of 35 years and over. A diagram is presented which may serve as a model for improved data collection and better impact estimates in the future.     

Algal succession in a Macrocystis pyrifera forest

Algal succession within a subtidal forest of the giant kelp Macrocystis pyrifera was studied by following colonization and community development on concrete blocks fastened to the bottom. Sets of blocks were placed in the bed at 3-month intervals. Subsequent algal development on each set was followed for over a year. All macroscopic species attached to the substrata were noted, and the number and lenght of basal branches determined every 1 to 3 months. Colonizing plants fell into 3 categories: rapid-growing ephemerals, and rapid and slow-growing perennials. Ephemerals such as Giffordia (Ectocarpus) mitchellae, Colpomenia peregrina, and diatom films generally produced and initial bloom on the blocks but were gradually replaced by perennials (articulated corallines, Rhodymenia spp., Gigartina spp.) characteristic of the mature kelp community. These stages, rather than representing “ecological” succession, seemed to reflect differences in growth rate and success in interspecific competition for space and light. Colonization on the blocks varied with season, indicating that most species have either a spring-summer or fall-winter period of maximum reproduction. M. pyrifera sporophyte colonization was greatest in spring. During community development, algal diversity (H), number of species (s) and evenness (J) all reached a peak within 100 to 200 days regardless of the time the blocks were started. Diversity and number of species then fell as ephemeral species disappeared. These species were apparently unable to compete with perennials and, once gone, did not recolonize. Evenness remained high.     

The evolution of uniparental transmission of fungal symbionts in fungus-growing termites (Macrotermitinae)

Mutualistic associations between different organisms are theoretically expected when the interests of independently reproducing units are aligned to form a single reproductive unit. This alignment does not come about easily, because models show that hosts and symbionts can be in conflict over the transmission of symbionts. Selection will favour hosts that are able to limit genetic variation of symbionts, for example by enforcing uniparental vertical transmission, while symbionts will be selected to disperse independently of the host. A crucial factor determining the evolution and elaboration of symbiotic relationships is therefore who controls the transmission of symbionts. In the fungus-growing termites (Macrotermintinae) horizontal transmission seems to be the rule as the termites normally acquire their cultivated fungus (Termitomyces) from the environment. In spite of this general pattern, uniparental, vertical transmission has evolved in two unrelated Macrotermitinae genera, where only one sex of the two primary reproductives carries asexual spores from the fungal comb of its parent colony to inoculate the new fungus comb. Remarkably, symbiont transmission is exclusively paternal in Macrotermes bellicosus, whereas symbionts are maternally inherited in all Microtermes species studied so far. Thus, in Macrotermitinae horizontal transmission is the ancestral state with two independent origins to uniparental, vertical transmission. This is in contrast to fungus-growing ants where uniparental, vertical transmission is the rule. Causes and consequences of this difference are further discussed. Despite this fundamental difference both groups evolved a similar symbiosis that is probably the key for their ecological success: the fungus-growing ants in the neotropics and the fungus-growing termites in the paleotropics.     

Reproductive effects of tris(4-chlorophenyl)methanol in the rat.

Tris(4-chlorophenyl)methanol (TCPM) is a global contaminant of unknown origin that is structurally related to the endocrine modulating pesticides 1,1,1-trichloro-2,2-bis(p-chlorophenyl)ethane (DDT) and Dicofol. Therefore, the potential reproductive toxic effects of TCPM were investigated in sexually mature male Sprague Dawley rats (n = 20) treated with 1.0, 10.0 or 100 ppm of TCPM mixed in the diet for 28 days. The calculated TCPM intake was 0.0, 0.1, 1.2 and 12.4 mg/kg/day, respectively. Serum concentrations of follicle stimulating hormone (FSH) in terminal blood samples were significantly (P < 0.02) elevated in the highest dose group compared to the controls. In contrast, dietary exposure to TCPM had no effect on circulating levels of luteinizing hormone (LH), testosterone (T) and the T/LH ratio. Incubation of MCF-7 cells with increasing concentrations of TCPM failed to either induce proliferation or to block the proliferative effect induced by estradiol indicating that TCPM is neither estrogenic or anti-estrogenic. Relative binding affinity studies using androgen receptors from the prostate revealed that TCPM has a binding affinity comparable to 1,1-dichloro-2,2-bis(p-chlorophenyl)ethylene (p,p'-DDE), the principle metabolite of DDT. In addition, the calculated Ki (0.62 microM) for TCPM is lower than the reported Ki's for the antiandrogenic pesticides p,p'-DDE and vinclozolin. Although TCPM binds with the androgen receptor in vitro, the absence of both an effect on serum T levels and morphological changes in the testis suggests that the mechanism of action for elevated FSH levels seen in vivo may not involve an antiandrogenic effect of TCPM at the dose level used in this study. The no adverse effect level for reproductive effects of TCPM is 10 ppm which is equivalent to a calculated intake of 1.2 mg/kg/day.     

Loss of PM2.5 nitrate from filter samples in central California

Evaporative loss of particulate matter (with aerodynamic diameter < 2.5 microm, [PM2.5]) ammonium nitrate from quartz-fiber filters during aerosol sampling was evaluated from December 3, 1999, through February 3, 2001, at two urban (Fresno and Bakersfield) and three nonurban (Bethel Island, Sierra Nevada Foothills, and Angiola) sites in central California. Compared with total particulate nitrate, evaporative nitrate losses ranged from < 10% during cold months to > 80% during warm months. In agreement with theory, evaporative loss from quartz-fiber filters in nitric acid denuded samplers is controlled by the ambient nitric acid-to-particulate nitrate ratio, which is determined mainly by ambient temperature. Accurate estimation of nitrate volatilization requires a detailed thermodynamic model and comprehensive chemical measurements. For the 14-month average of PM2.5 acquired on Teflon-membrane filters, measured PM2.5 mass was 8-16% lower than actual PM2.5 mass owing to nitrate volatilization. For 24-hr samples, measured PM2.5 was as much as 32-44% lower than actual PM2.5 at three California Central Valley locations.