A comparison of total and free β-HCG assays in Down syndrome screening

Free β-HCG is a new analyte that has been suggested to be superior to total HCG when used in combination with alpha-fetoprotein (AFP) for Down syndrome risk screening in early pregnancy. We have evaluated this claim on 21 samples collected from Down syndrome pregnancies and 180 samples from unaffected pregnancies. The detection rates for the combination of AFP with free β-HCG or the combination of AFP with total HCG were identical (71 per cent) but the initial screen positive rate (equivalent to the false-positive rate) was 7·5 per cent for AFP+free β-HCG screening compared with 3·5 per cent for AFP+ total HCG screening. We conclude that the case for free β-HCG is unproven and suggest that further data be collected before free β-HCG becomes acceptable.     

Cytogenetic experience in prenatal fra(X) detection on amniotic fluid cultures

Since 1987, we have had experience with 13 prenatal diagnoses of 11 women at risk for the fragile X syndrome by cytogenetic studies on amniotic fluid cultures. The induction method included TC 199 medium and methotrexate. Results were obtained in all cases. Ten were males and three were prenatally diagnosed as being affected. Three were females and none of them was fra(X)-positive. Results were confirmed in 10/13 cases. In these cases, we had neither false-positive nor false-negative results.     

Improved performance in a prenatal screening programme for Down's syndrome incorporating serum-free hCG subunit analyses

A prenatal screening programme for Down's syndrome potentially detecting 76 per cent of affected pregnancies in the South Australian general population at an amniocentesis rate of 3.9 per cent was designed following analysis of mid-trimester serum samples from 57 women who carried an affected fetus. This equates to one affected pregnancy being detected for 41 chromosomal analyses performed. For the experimental series, 75.4 per cent of affected pregnancies were detected, while 4.1 per cent of control specimens produced estimated risk odds consistent with further action. A maternal risk odds of birth of a Down's syndrome fetus of 1:420 was taken as the decision value, which is the prevalence of Down's syndrome births to 35-year-old mothers in South Australia. This screening performance was achieved by investigating combinations of serum analytes not previously reported and by refining the calculation of maternal risk odds to include selective weighting of indicator analytes. Combination of the measurements of free α-subunits and β-subunits of chorionic gonadotrophin, α-fetoprotein, unconjugated oestriol, and placental lactogen was found to be most effective in indicating Down's syndrome fetuses. In all combinations of analytes tested, replacing the measurements of free α-subunits and free β-subunits of chorionic gonadotrophin with the measurement of intact chorionic gonadotropin produced a less effective screen.     

Biomass systems and environmental degradation in an Himalayan village

Summary Detailed analyses of the utilisation of the natural forest and its forest products by the community of a small Indian Himalayan village, reveal various interactions between the forest, the people, their agricultural systems and their methods of animal husbandry. Biomass flow systems have been identified and processes of forest and environmental degradation described.     

Development of non-invasive fetal DNA diagnosis from maternal blood

Several attempts have been made to detect and retrieve fetal nucleated cells including nucleated erythrocytes (NRBCs), leukocytes, and trophoblasts in maternal blood. We have recently developed a new method for non-invasive fetal DNA diagnosis from maternal blood. Peripheral blood granulocytes including NRBCs were isolated by a discontinuous density gradient method using Percoll (Pharmasia). NRBCs were found and retrieved at a single cell level using a micromanipulator under a microscope. To determine whether the origin of the NRBCs was maternal or fetal, the NRBCs were analysed by polymerase chain reaction (PCR) amplification to determine the presence of a Y-chromosome-specific repeat sequence in mothers carrying male fetuses. We were successful in predicting fetal sex accurately in 10 out of 11 samples taken from maternal blood. This new technique opens up fetal DNA diagnosis from maternal blood during the first trimester of pregnancy to the whole population because there is no risk to the fetus or the mother.     

Diastrophic dysplasia: A specific prenatal diagnosis by ultrasound

In a pregnant woman without increased genetic risk, the presence of distrophic dysplasia of the fetus was diagnosed sonographically at 31 weeks' gestation and definitively distinguished from other skeletal dysplasias. In all prenatal diagnoses of diastrophic dysplasia reported so far, this autosomal recessive congenital condition had occurred in the family's previous children and this made the diagnoses of fetal diastrophic dysplasia easier. The reported case was diagnosed due to evidence of an extreme shortening of all long bones of the extremities associated with other skeletal deformities which, taken as a whole, are typical of this syndrome: micrognathia, cervical kyphosis, persistent extension limitation in elbow and knee joints, club feet, ulnar diviation of hands, shortened phalanges, and, in particular, abduction of thumbs (‘hitchhiker thumbs’) and big toes.     

Selective separation and preconcentration studies of chromium(VI) with Alamine 336 supported liquid membrane

Chromium compounds have received considerable attention because these are used extensively in such industrial applications as electroplating, steelmaking, tanning of leather goods, and corrosion inhibition. The use of supported liquid membranes (SLMs) to remove metals from wastewaters has actively been pursued by the scientific and industrial community. In the present work, the selective separation and preconcentration of Cr(VI) ions has been studied by using a commercial amine as the membrane liquid on the porous polypropylene support. Permeation experiments were conducted on a laboratory scale batch reactor made up of perspex, with a memberane fixed amid the two chambers. The flux of Cr(VI) ions was found to be maximum (3.15?×?10^?5?mol?cm^?2?s^?1) around pH 1. Above and below this pH the flux decreases. Distribution studies show that an increase in the amine concentration leads to higher distribution coefficients at fixed pH values. At pH around unity, the distribution of Cr(VI) ions into the organic phase was found to be maximum, of the order of 56.3. The Cr(VI) transport through the membrane increases with rise in temperature. In order to check the long-term efficiency of the flat sheet SLM, an experiment was conducted with higher Cr(VI) concentration (5000?ppm) for 24?h, at optimised parameters. It was observed that in 24?h, about 1/5th of the feed Cr(VI) is left over while the rest is transported. However, minute organic droplets were also seen in the feed and strip compartments, after 1 day. This observation suggested the loss of membrane liquid. The feasibility of preconcentration of Cr(VI) by using the proposed SLM parameters, was also studied by using the hollow fibre (HF) system. Highest enrichment factor (E.F) value was obtained for 50?mg?L^?1 whereby all of the metal was transported to the stripping phase and the resulting Cr concentration was 688?mg?L^?1 (E.F?=?13.8). It was observed that while treating more diluted solutions, the enrichment factor decreases. The values of E.F equal to 8.9 and 11.3 were found for initial Cr concentration of 10 and 30?mg?L^?1.     

Admissions to the Cardiff Poisons Unit involving paracetamol poisoning (1989–2002)

In this study, the trends in paracetamol poisoning were examined over more than a decade in Cardiff and compared with patterns for other substances taken in overdose. All data concerned patients aged 14 years and over of both genders, who were referred to the Cardiff Poisons Treatment Unit between 1989 and 2002. The Chi-squared test for trend was used. During the 14-year study period, there were 18,834 admissions to the hospital, involving poisoning either with pure paracetamol or paracetamol in combination with other drugs (37%, N = 6975), and the proportion of admissions with paracetamol poisoning increased from 36% in 1989 to 44% in 2002. Paracetamol was the second most common drug associated with admissions related to poisoning to the Cardiff Poisons Treatment Unit (37%), after alcohol (48%). Thus, paracetamol poisoning remains a major public health concern in the UK.     

Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis

We describe the finding of three cell lines involving different structural abnormalities of chromosome 8 detected in a prenatal diagnosis. Chorionic villi sampling (CVS) was performed on a pregnant woman because of advanced maternal age. Semidirect cytogenetic analysis showed a mos46,XX,i(8q)/46,XX,del(8)(p11.2) karyotype, confirmed by fluorescence in situ hybridization (FISH). Amniocentesis was subsequently performed, and the karyotype obtained was 46,XX,dup(8)(p23p11.2). The pregnancy was terminated; pathologic findings included clubfeet, clenched left hand, subcutaneous edema and bilateral hydrocephalus. Molecular studies using chromosome 8 microsatellites performed on parents' blood and fetal tissues revealed a maternal meiotic origin of the inv dup(8p) with deletion of the distal p23 region and duplication of the remaining 8p. We propose a model to explain the cytogenetic findings, which includes a first maternal meiotic error giving rise to a large dicentric isochromosome 8 present in the ovum, a second error in one of the first zygote divisions with misdivision of the dicentric 8 giving rise to a cell line with del(8p) confined to the trophoblast and another cell line with inv dup(8p) confined to the fetal tissue and a third error in the trophoblast giving rise to a further cell line with isochromosome 8q. Copyright © 2003 John Wiley & Sons, Ltd.