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.     

Detection of low-grade mosaicism in fetal cells isolated from maternal blood

Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.     

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.     

ANALYZING CORRELATIONS BETWEEN STREAM AND WATERSHED ATTRIBUTES1

ABSTRACT: Bivariate correlation analysis has been widely used to explore relationships between stream and watershed attributes that have all been measured on the same set of watersheds or sampling locations. Researchers routinely test H₀: ρ= 0 for each correlation in a large table and then go on to discuss only those that are declared “significant.” Such test results are inaccurate because no allowance is made for multiple testing, and also because the tests are not mutually independent. This paper reviews the Bonferroni approach to controlling the overall error rate in multiple testing and shows how the approach becomes impractical for large correlation tables. The Hotelling/Williams test is introduced for comparing two dependent correlations that share a variable, and numerical constraints for two such correlations are illustrated. References are also given for testing other hypothesized patterns among dependent correlations, and links to dependent correlation software are provided. The methods are illustrated for watershed and stream variables sampled in 23 small agricultural watersheds of the Willamette Valley, Oregon.     

Design of a representative and cost-effective sampling programs for industrial wastewater with examples from bleached kraft pulp and paper mills

The diagram constructed for selection of sampling methods indicates that, for a systematic error, E ≤ 13%, grab sampling (GS) may be used to characterize effluents with variation coefficient of flow ≤ 120% and of contaminant concentrations ≤ 10%. For the whole studied range of variation coefficient of contaminant concentrations (2–82%), time-proportional compositing (TC) method may be applied with E ≤ 10% for effluents characterized by variation coefficients in flow < 90%. The more complicated flow-proportional compositing (FC) method is required only for effluents with larger variation coefficients or to produce more precise results. The diagram constructed for selection of sampling frequencies indicates that sequential sampling at intervals of approximately 60 min may be applied with E ≤ 10% for effluents characterized by variation coefficients ≤ 30%. Practical application of the diagrams, constructed using normal series, was checked against monitoring data from two pulp and paper mills in Vietnam. The two diagrams provided results on sampling methods and frequencies in good agreement with those obtained from actual monitoring data with percentages of agreement cases of 80 and 75%, respectively. The approach was applied in design of a monitoring program at the Bai Bang integrated pulp and paper mill in Vietnam.     

Application of a health promotion model to community-based sustainability planning

The future of human health and that of all other species depends on the viability and sustainability of a host of environments and ecosystems. Human behaviours have profound effects (both positive and negative) on such ecosystems. Despite the obviousness of these statements, there remains a lack of clarity around the mechanisms for altering specific behaviours related to sustainability and their impact on environments. This paper offers a conceptual framework for identifying relations between human behaviour and ecosystem health and sustainability. We also discuss strategies for changing target behaviours in the context of a programme or policy planning. Finally, we draw on research that applies this adaptation to a small island community near Vancouver, Canada.