Prenatal diagnosis of mosaicism for triploidy and trisomy 13

Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd.     

What Exactly Is an Endangered Species? An Analysis of the U.S. Endangered Species List: 1985–1991

Critics of the Endangered Species Act have asserted that is protects an inordinate number of subspecies and populations, in addition to full species, and that the scientific rationale for listing decisions is absent or weak. We reviewed all U.S. plants and animals proposed for listing or added to the endangered species list from 1985 through 1991 to determine the relative proportion of species, subspecies, and populations, and their rarity at time of listing. Approximately 80% of the taxa added to the list were full species, 18% were subspecies, and 2% were distinct populations segments of more widespread vertebrate species. The proportion of subspecies and populations was considerably higher among birds and mammals than among other groups. The median populations size at time of listing for vertebrate animals was 1075 individuals; for invertebrate animals it was 999. The median population size of a plant at time of listing was less than 120 individuals. Earlier listing of declining species could significantly improve the likelihood of successful recovery, and it would provide land managers and private citizens with more options for protecting vanishing plants and animals at less social or economic cost.     

Examples of the role of analytical chemistry in environmental risk management research

Analytical chemistry is an important tier of environmental protection and has been traditionally linked to compliance and/or exposure monitoring activities for environmental contaminants. The adoption of the risk management paradigm has led to special challenges for analytical chemistry applied to environmental risk analysis. Namely, methods developed for regulated contaminants may not be appropriate and/or applicable to risk management scenarios. This paper contains examples of analytical chemistry applied to risk management challenges broken down by the analytical approach and analyte for some selected work in our laboratory. Specific techniques discussed include stable association complex electrospray mass spectrometry (cESI-MS), gas chromatography-mass spectrometry (GC-MS), split-flow thin cell (SPLITT) fractionation and matrix-assisted laser desorption time of flight mass spectrometry (MALDI-ToF-MS). Specific analytes include haloacetic acids (HAA9), perchlorate, bromate, triazine degradation products, metal-contaminated colloids and Cryptosporidium parvum oocysts.     

Parameters Influencing Sediments Resuspension and the Link to Sorption of Inorganic Compounds

In the aquatic environment, the accumulation of chemicalcontaminants by sediments poses a potential threat to endemiclife forms and drinking water resources. Trace metals such asCd, Cu, Cr, Ni, Pb, and toxic organic compounds, are among awide variety of contaminants having an affinity for sediments.In this study, experiments were performed simulating sedimentresuspension in the lower Housatonic River, Connecticut, using aParticle Entrainment Simulator. Analyses of grain sizedistributions, porosities and total organic contents of thesediments suggested that these parameters influence theredistribution and entrainment of settleable solids in the watercolumn. These findings were established by evaluating the impactof one parameter on sediment resuspension as a function ofstream flow with the other two characteristics being heldconstant. Total suspended solids and volatile suspended solidsresuspension concentration ranged from 3.2 to 20648.3 mg L^-1,and 1.5 to 1823.8 mg L^-1, respectively, with subsequentincreases in flow rates from 9 to 6 dynes cm^-2. The resuspension concentrations were augmentedby sediment porosity (22.0 to 57.5%), percent finer grain-size distributions at 0.1 mm, and total organic content (2.7 g kg^-1 to 29.0 g kg^-1). Using K _p values, and the dissolvedcontaminant levels of various trace metals, the particulatecontaminant levels of the metals were determined under variousoscillation rates. As sediment resuspension increased withincreased stream flow, there was an overall general increasefrom 0.02 to 33.6 g L^-1 in the particulatecontaminant levels of Cd, Cu, Cr, Ni and Pb.     

Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

Vitamins,folic acid and neural tube defects: Comments on investigations in the United States

No clear answer concerning whether multivitamin/folate supplementation prevents neural tube defects (NTDs) is provided by three studies in the United States. All these studies are occurrence in nature, no recurrence studies having been conducted. The Atlanta Birth Defects Study is subject to pronounced memory and recall biases, the length between event and interview being as long as 16 years. In a second study (Boston University), objections can be raised to certain aspects of the experimental design, and the claim that 22 per cent of women started vitamins sufficiently early after pregnancy diagnosis to influence NTD formation is suspicious. Our NICHD case control study of 541 women in California and Illinois revealed no evidence for multivitamins or folic acid preventing NTDs. U.S. public policy-makers face difficulties in applying results of recurrence or occurrence studies in high-risk areas to low-risk areas in the U.S.     

Effects of mid-trimester induced abortion on the subsequent pregnancy

The outcome of the pregnancy following (a) a mid-trimester termination of pregnancy (TOP) for fetal neural tube defect (NTD) (77 women=group 1); (b) mid-trimester TOP for fetal Down's syndrome (13 women=group 2); (c) delivery of a baby with NTD (119 women=group 3) was studied. The prenatal fetal loss was relatively high in all groups. In group 1 it was similar to that found in other studies after first trimester TOP, in group 2 it was associated with advanced maternal age and the unexpected finding in group 3 was not attributable to advanced maternal age. It is suggested that a previous NTD per se might increase the risk of fetal loss in the next pregnancy. A previous mid-trimester TOP for NTD was not associated with an increase in premature labour, small for dates babies or congenital abnormality in the next pregnancy, but there was a slight increase in the number of babies weighing less than 2500 g.     

Nitrous Oxide in Agricultural Drainage Waters Following Field Fertilisation

Dissolved nitrous oxide (N₂O), nitrate (NO₃ ^-), and ammonium (NH₄ ⁺) concentrations in an agricultural field drain were intensively measured over the period of field nitrogen (N) fertilisation and for several weeks thereafter. Supersaturations of dissolved N₂O were observed in field drain waters throughout the study. On entry to an open drainage ditch, concentrations of dissolved N₂O rapidly decreased and a total N₂O-N emission via this pathway of 13.2 g over the period of study (45 days) was calculated. This compared with a predicted emission of the order of 300 g, based on measured losses of NO₃ ^- and NH₄ ⁺ in the field drainage water, and the default IPCC emission factor of 0.01 kg N₂O-N per kg Nentering rivers and estuaries. In contrast to widespread evidence of a clear relationship between the amount of N applied to agricultural land and subsequent direct N₂O emission from the soil surface, the relationship between the amount of N₂O in soil drainage waters and the amount of N applied was poor. We conclude that the complexity, both spatially and temporally, of the processes ultimately responsible for the amount of N₂O in agricultural drainage waters make a straightforward relationship between N₂O concentration and N application rate unlikely in all but the simplest of systems.     

The challenges of sustainability in mining regions: The coal mining region of Santa Catarina, Brazil

Throughout history, mining communities have invariably found themselves striving for a good quality of life and a long‐term future. In the 21st century, problems of maintaining the economic vitality of mining regions are now compounded by concerns about the biophysical integrity of the local environment. In regions of the world where the economic viability of the resource is marginal and achieving a reasonable quality of life is a daily struggle, sustainable mining may seem to be a dubious prospect at best. Yet the twin imperatives of global political forces and burgeoning environmental concerns are requiring industry, governments and other interests to re‐conceptualize the way in which mining takes place in communities. Although mining itself may not be seen as an industry that contributes to the achievement of environmental objectives, it could — with careful planning — be used as a tool to foster a more sustainable and healthier community. This argument is considered in the context of the coal mining region of Santa Catarina, Brazil.