Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation

Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.     

Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy

A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.     

Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction

The polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19ql2-ql3.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 151/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction.     

Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.     

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.     

Effects of population density and cadmium toxicity on growth and survival of blowflies

The blowfly Lucilia sericata has been reared on artificial diets containing from 0 to 200 mg Cd kg(-1) at population densities ranging from 8 larvae per 4-g diet to 8 larvae per 32-g diet. Peak larval weight, development period, pupal weight, adult-emergence weight, and fecundity were measured. Larvae of blowflies respond to food deprivation by a reduction in larval weight and subsequent pupal and adult size. Contaminating the food supply with cadmium produced similar additive effects, reduced the growth rate, and increased the age of pupation. The results are of importance in determining the effects of environmental pollutants on population dynamics.     

Congestion and participation in outdoor recreation: A household production function approach

This paper examines the effects of congestion on recreational behavior within a household production model of consumer behavior. We assume that congestion affects the household's ability to produce constant quality recreational service flows and derive a reduced-form model for participation decisions in remote and developed camping. Empirical estimates of the effects of a congestion measure on the conditional probability of participation as well as on the level of participation are estimated for each activity by the type of trip using information from the 1972 National Recreation Survey. The findings suggest that congestion was most likely to affect the decision to participate and not the level once that decision had been made. While differences in these effects were observed across the activities studied, it is not clear how they should be interpreted since our congestion measure was a proxy variable likely to perform better for remote camping than developed camping.     

Traceability in low-level radioactivity measurements

Various suggested definitions of the term “traceability” are discussed from the standpoint of proposed adoption and use of the concept by the International Organization of Legal Metrology.     

Threshold and dose response estimation using the “filter model”

The “filter model” has been developed to explain the biologic effects of radiation and chemicals. We have examined nearly 300 sets of dose response data, of which 50 are presented here. Responses (induced by radiation and chemicals) which have been examined include in vitro survival studies on animal and plant tissues, induction of cellular aberrations and time to tumor or death. Similar data from in vivo studies has also been examined. All of the data appear to fit the model R = a lnD + b(lnD)² + c, where R is the response, a and b are parameters fitted by regression to a particular set of data, and c is the response at zero (or lowest) dose. By writing this model in exponential form, it can be seen that the response R results from multistage filtering (by net amounts a and b) of the initial dose, D. The threshold is obtained from this model as the point, $\text{D}\text{?}{}_{\mathrm{T}}$, at which the second derivative becomes zero. This is given by $\text{D}\text{?}{}_{\mathrm{T}}\text{=}\text{exp}\text{(1 ?}\text{a}\text{2b}\text{)}$ when a and b are oppositelt signed.     

WORLD PETROLEUM RESOURCE ESTIMATES AND PRODUCTION FORECASTS: IMPLICATIONS FOR GOVERNMENT POLICY

Resource estimates alone will not give advance warning of encroaching production difficulties. An analysis of the general stages in the evolution of petroleum production and discovery and of industry statistics provides an estimate of when the stage characterised by increasing production in the market economy countries outside the United States and Canada will end. The analysis indicates that the year of maximum production will be in the 1990s. Economic growth aggravates the difficulties accompanying the production decline by advancing the date of peak production and by increasing the adjustments that must be made as oil production declines. Des prévisions de ressources à elles seules ne constituent pas des signes précurseurs de difficultés croissantes de production. Une analyse des étapes générales marquant l'evolution de la découverte et de la production du pétrole ainsi que des statistiques industrielles nous permet de prévoir l'époque à laquelle prendra fin la phase de production accrue dans les pays à économie de marché en dehors des Etats-Unis et du Canada. Cette analyse révèle que l'année de production maximale se situera dans les années 90. La croissance économique accentue les difficultés qui accompagnent le déclin de la production de pétrole en avancant la date à laquelle cell-ci atteindra son plafond et en augmentant le nombre d'ajustements qui s'avèrent nécessaires au fur et à mesure qu'elle baisse. Las evaluaciones de recursos no dan por si solas un aviso anticipado de las dificultades de producción. Un análisis de las etapas principales en la evolución del descubrimiento y producción de petróleo y de las estadísticas industriales provee un estimado de cuando va a terminar la etapa caracterizada por un crecimiento de producción en los paises de economias de mercado otros que Estados Unidos y Canada. El análisis indica que el año de producción máxima se hallará en la década del 90. El crecimiento económico agrava las dificultades debidas a la declinación de la producción al adelantar la fecha de máxima producción (pico) y al aumentar los ajustes que deven hacerse cuando la producción de petróleos disminuye.