Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment

The American College of Obstetricians and Gynecologists currently recommends that all pregnant women be offered screening for chromosomal abnormalities, regardless of maternal age. Traditional screening tests have detection rates ranging from 85% to 90% and false-positive rates of 3% to 5%. A woman with an abnormal noninvasive test is offered a diagnostic test, but diagnostic tests are associated with a risk of pregnancy loss. Recently, analysis of cell-free fetal DNA (cffDNA) in maternal blood has been shown to have potential for the accurate detection of some of the common fetal autosomal aneuploidies. As part of a technology assessment for the California Technology Assessment Forum, we critically reviewed the evidence for the use of cffDNA as a prenatal screening test. We evaluated the evidence for its use as either a ‘primary’ or an ‘advanced’ screening test and for its use in screening for three different trisomies: 21, 18, and 13. We evaluated whether the use of cffDNA met established technology assessment criteria and established conclusions about evidence-based use of this new technology. © 2013 John Wiley & Sons, Ltd.     

The role of natural disaster in individual and relational adjustment in Sri Lankan mothers following the 2004 tsunami

The purpose of this study is to examine the associations between maternal mental health distress symptoms, including depression and post‐traumatic stress disorder, the extent to which the presence of a child's disaster‐related physical health problem(s) have interfered with daily functioning, and family cohesion over time among Sri Lankan mothers who survived the tsunami on 26 December 2004. Study variables were measured using a self‐report questionnaire administered approximately four months after the event and three years later in summer 2008. Univariate, bivariate, and multivariate analyses were conducted. Path analysis was employed to assess the relationships between the key variables over time and the correlations in the study variables at each time point. Among other findings, the results of the path analysis indicated that post‐traumatic stress symptom distress four months after the disaster significantly predicted variance in family cohesion three years later. Clinical and empirical research implications are presented and discussed.     

Efficacy of Vegetated Buffers in Preventing Transport of Fecal Coliform Bacteria from Pasturelands

An experimental study was conducted in Tillamook, Oregon, USA, to quantify the effectiveness of edge-of-field vegetated buffers for reducing transport of fecal coliform bacteria (FCB) from agricultural fields amended with dairy cow manure. Installation of vegetated buffers on loamy soils dramatically reduced the bacterial contamination of runoff water from manure-treated pasturelands, but the size of the vegetated buffer was not an important determinant of bacterial removal efficiency. Only 10% of the runoff samples collected from treatment cells having vegetated buffers exhibited FCB concentrations >200 colony forming units (cfu)/100 mL (a common water quality standard value), and the median concentration for all cells containing vegetated buffers was only 6 cfu/100 mL. The presence of a vegetated buffer of any size, from 1 to 25 m, generally reduced the median FCB concentration in runoff by more than 99%. Results for FCB load calculations were similar. Our results suggest that where substantial FCB contamination of runoff occurs from manure-treated pasturelands, it might be disproportionately associated with specific field or management conditions, such as the presence of soils that exhibit low water infiltration and generate larger volumes of runoff or the absence of a vegetated buffer. Buffer size regulations that do not consider such differences might not be efficient or effective in reducing bacterial contamination of runoff.     

Use of Ordination Techniques to Follow Community Succession from Oil Impact to Recovery in the Field

Much effort has been directed toward elucidating pollution effects on marine benthic communities (Pearson and Rosenberg, 1978; Sanders et al., 1980; NAS 1985). Less effort has been directed at methods of data analysis which will identify distribution patterns and relationships between communities. Traditional community structure summary parameters such as species richness and various indices of diversity utilize only part of the information contained in a data set and are not very useful in elucidating relationships between communities of animals.     

Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency

NADH:ubiquinone oxidoreductase (complex I of the mitochondrial respiratory chain) deficiency is a severe disorder with an often early fatal outcome. Prenatal diagnosis for complex I defects currently relies mainly on biochemical assays of complex I in fetal tissues such as chorionic villi (CV), and is only in a minority of cases possible by means of mutational analysis of nuclear-encoded genes of complex I. We report on our experience to date with prenatal diagnosis in pregnancies at risk for complex I deficiency. We measured complex I activity in native CV and/or cultured CV in 23 pregnancies in 15 families. In accordance with the results of the investigations in CV, 15 children were born clinically unaffected. Two prenatally diagnosed unaffected fetuses and two prenatally diagnosed affected fetuses were lost prematurely with spontaneous or provoked abortions, respectively. Two affected children were born (prenatally found to be affected). In two pregnancies a discrepancy between native and cultured cells was found. We conclude that prenatal diagnosis for complex I deficiency can be reliably performed. Pitfalls were encountered in using cultured CV as a result of maternal cell contamination (MCC). Future research on pathogenic nuclear mutations underlying complex I deficiency will extend the possibilities for prenatal diagnosis at the molecular level. Copyright © 2001 John Wiley & Sons, Ltd.     

Uptake and cellular distribution of cadmium in Mytilus edulis

Cadmium uptake has been studied in starved and fed Mytilus edulis L. It is suggested that fairly elevated cadmium contents in fed mussels are not due to contaminated food, but to increased pumping rate when food is available. Highest concentration and main body burden are found in the mid-gut gland. Transport via haemolymph, and selective discrimination at the basement lamina of the mid-gut gland tubuli are regarded as mainly responsible for accumulation. Mercury seems to be processed in a similar way as cadmium. In the tubuli, both metals are immobilized in membrane-bound vesicles, which are finally defaecated.This work was financially supported by the German Research Council (DFG) (Sto 75/4 and Th 158/13).