Prenatal diagnosis,fetal pathology,and cytogenetic analysis of mosaic trisomy 14

While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth.     

Exclusion of chromosomal mosaicism in amniotic fluid cultures: Efficacy of in situ versus flask techniques

Accurate diagnosis of mosaicism in amniotic fluid cell cultures represents a major problem. If insufficient cells are analysed, true fetal mosaicism may go undetected. False-positive diagnosis is also possible since a second cell line may arise in vitro and not reflect the true fetal genetic constitution. These difficulties apply to both flask and in situ culture techniques, to varying degrees. The relative accuracy of flask versus in situ culture techniques in excluding mosaicism was determined by statistical analysis of experimental data from ten pairs of mixed male-female amniotic fluid specimens. The data support the idea that the majority of in situ colonies are independent of one another. The following conclusions are drawn: (1) analysis of a single metaphase from a number of different colonies enhances the confidence for excluding mosaicism; (2) analysis of more than one cell per colony offers little advantage; (3) exclusion of a given level of mosaicism requires analysis of fewer metaphases using the in situ method; (4) the confidence for excluding mosaicism is high with both in situ and flask techniques, using the provided guidelines; and (5) it is shown that the two-stage approach used by many laboratories is currently the most efficient way to exclude mosaicism.     

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.     

Sludge-grown algae for culturing aquatic organisms: Part II. Sludge-grown algae as feeds for aquatic organisms

This project investigated the feasibility of using sewage sludge to culture microalgae (Chlorella-HKBU) and their subsequent usage as feeds for rearing different organisms. Part II of the project evaluated the results of applying the sludge-grown algae to feedOreochromis mossambicus (fish),Macrobrachium hainenese (shrimp), andMoina macrocopa (cladocera). In general, the yields of the cultivated organisms were unsatisfactory when they were fed the sludge-grown algae directly. The body weights ofO. mossambicus andM. macrocopa dropped 21% and 37%, respectively, although there was a slight increase (4.4%) inM. hainenese. However, when feeding the algal-fed cladocerans to fish and shrimp, the body weights of the fish and shrimp were increased 7% and 11% accordingly. Protein contents of the cultivated organisms were comparable to the control diet, although they contained a rather high amount of heavy metals. When comparing absolute heavy metal contents in the cultivated organisms, the following order was observed: alga > cladocera > shrimp, fish > sludge extracts. Bioelimination of heavy metals may account for the decreasing heavy metal concentrations in higher trophic organisms.     

A systemic health risk assessment for the chromium cycle in Taiwan

Health risk assessment (HRA) has been recognized as a useful tool for identifying health risks of human activities. In particular, this method has been well applied to spatially defined units, such as a production plant, a treatment facility, and a contaminated site. However, the management strategies based on the risk information will be more efficient if the comprehensive picture of total risks from all kinds of sources is depicted. In principle, the total risks can be obtained when all risk sources are assessed individually. Apparently, this approach demands huge amount of efforts. This study develops a methodology that combines substance flow and risk estimation to facilitate examination of risk in a systemic way and provide comprehensive understanding of risk generation and distribution corresponding to flows of substances in the anthroposphere and the environment. Substance flow analysis (SFA) and HRA method is integrated to produce a systemic risk assessment method, from which substance management schemes can be derived. In this study, the chromium cycle in Taiwan is used as an example to demonstrate the method, by which the associated substance flow in the economy and the risk caused by the substance in the environmental system is determined. The concentrations of pollutants in the environmental media, the resultant risks and hazard quotients are calculated with the widely-used CalTOX multimedia model.     

An integrated multivariate statistical approach for the evaluation of spatial variations in groundwater quality near an unlined landfill

Environmental Science and Pollution Research - Groundwater is a major resource for water supply in Canada, and 43 of 68 Saskatchewan municipalities rely on groundwater or combined groundwater and...