Noninvasive screening by cell-free DNA for 22q11.2 deletion: Benefits,limitations, and challenges

Cell-free DNA (cfDNA) testing for fetal aneuploidy is one of the most important technical advances in prenatal care. Additional chromosome targets beyond common aneuploidies, including the 22q11.2 microdeletion, are now available because of this clinical testing technology. While there are numerous potential benefits, 22q11.2 microdeletion screening using cfDNA testing also presents significant limitations and pitfalls. Practitioners who are offering this test should provide comprehensive pretest and posttest prenatal counselling. The discussion should include the possibility of an absence of a result, as well as the risk of possible discordance between cfDNA screening results and the actual fetal genetic chromosomal constitution. The goal of this review is to provide an overview of the cfDNA testing technologies for 22q11.2 microdeletions screening, describe the current state of test validation and clinical experience, review “no results” and discordant findings based on differing technologies, and discuss management options.     

Iniencephaly is not uniformly fatal

Iniencephaly is an uncommon, but not rare, lesion involving a fusion between the posterior occipital bone and the cervical spine. Many cases are associated with other cranio-cervical abnormalities and anencephaly, and most are associated with other structural abnormalities. The prognosis is thought to be dismal. We describe a male infant, one of twins, who was diagnosed prenatally as having iniencephaly. The child was born without complication and has grown and thrived. This is the fourth patient with long-term survival with iniencephaly. We recommend that non-directive counselling be applied when presenting the findings of iniencephaly to parents.     

Method to assess component contribution to toxicity of complex mixtures: Assessment of puberty acquisition in rats exposed to disinfection byproducts

A method based on regression modeling was developed to discern the contribution of component chemicals to the toxicity of highly complex, environmentally realistic mixtures of disinfection byproducts(DBPs). Chemical disinfection of drinking water forms DBP mixtures.Because of concerns about possible reproductive and developmental toxicity, a whole mixture(WM) of DBPs produced by chlorination of a water concentrate was administered as drinking water to Sprague–Dawley(S–D) rats in a multigenerational study. Age of puberty acquisition,i.e., preputial separation(PPS) and vaginal opening(VO), was examined in male and female offspring, respectively. When compared to controls, a slight, but statistically significant delay in puberty acquisition was observed in females but not in males. WM-induced differences in the age at puberty acquisition were compared to those reported in S–D rats administered either a defined mixture(DM) of nine regulated DBPs or individual DBPs. Regression models were developed using individual animal data on age at PPS or VO from the DM study. Puberty acquisition data reported in the WM and individual DBP studies were then compared with the DM models. The delay in puberty acquisition observed in the WM-treated female rats could not be distinguished from delays predicted by the DM regression model, suggesting that the nine regulated DBPs in the DM might account for much of the delay observed in the WM. This method is applicable to mixtures of other types of chemicals and other endpoints.     

Relationships between regulated DBPs and emerging DBPs of health concern in U.S. drinking water

A survey was conducted at eight U.S. drinking water plants, that spanned a wide range of water qualities and treatment/disinfection practices. Plants that treated heavily-wastewater-impacted source waters had lower trihalomethane to dihaloacetonitrile ratios due to the presence of more organic nitrogen and HAN precursors. As the bromide to total organic carbon ratio increased, there was more bromine incorporation into DBPs. This has been shown in other studies for THMs and selected emerging DBPs (HANs), whereas this study examined bromine incorporation for a wider group of emerging DBPs (haloacetaldehydes, halonitromethanes). Moreover, bromine incorporation into the emerging DBPs was, in general, similar to that of the THMs. Epidemiology studies that show an association between adverse health effects and brominated THMs may be due to the formation of brominated emerging DBPs of heath concern. Plants with higher free chlorine contact times before ammonia addition to form chloramines had less iodinated DBP formation in chloraminated distribution systems, where there was more oxidation of the iodide to iodate (a sink for the iodide) by the chlorine. This has been shown in many bench-scale studies (primarily for iodinated THMs), but seldom in full-scale studies (where this study also showed the impact on total organic iodine. Collectively, the THMs, haloacetic acids, and emerging DBPs accounted for a significant portion of the TOCl, TOBr, and TOI; however, ∼50% of the TOCl and TOBr is still unknown. The correlation of the sum of detected DBPs with the TOCl and TOBr suggests that they can be used as reliable surrogates.     

Relationship Between Woody Plant Colonization and Typha L. Encroachment in Stormwater Detention Basins

We studied stormwater detention basins where woody vegetation removal was suspended for 2 years in Virginia, USA to determine if woody vegetation can control Typha populations and how early woody plant succession interacts with Typha, other herbaceous vegetation, and site factors. Distribution and composition of woody vegetation, Typha and non-Typha herbaceous vegetation biomass, and site factors were assessed at 100 plots in four basins ranging in age from 7 to 17 years. A greenhouse study examined the interaction of shade and soil moisture on Typha biomass and persistence. Principal component analysis identified an environmental gradient associated with greater water table depths and decreased elevation that favored Typha but negatively influenced woody vegetation. Elevation was correlated with litter layer distribution, suggesting that initial topography influences subsequent environmental characteristics and thus plant communities. Soil organic matter at 0–10 cm ranged from 5.4 to 12.7 %. Woody plants present were native species with the exception of Ailanthus altissima and Pyrus calleryana. In the greenhouse, shade and reduced soil moisture decreased Typha biomass and rhizome length. The shade effect was strongest in flooded plants and the soil moisture effect was strongest for plants in full sun. Typha in dry soil and heavy shade had 95 % less total biomass and 83 % smaller rhizomes than Typha in flooded soil and full sun, but even moderate soil moisture reductions decreased above- and below-ground biomass by 63 and 56 %, respectively. Suspending maintenance allows restoration of woody vegetation dominated by native species and may suppress Typha invasion.     

Toward Consensus-Based Actions that Balance Invasive Plant Management and Conservation of At-Risk Fauna

Limiting the spread of invasive plants has become a high priority among natural resource managers. Yet in some regions, invasive plants are providing important habitat components to native animals that are at risk of local or regional extirpation. In these situations, removing invasive plants may decrease short-term survival of the at-risk taxa. At the same time, there may be a reluctance to expand invaded habitats to benefit at-risk species because such actions may increase the distribution of invasive plants. Such a dilemma can result in “management paralysis,” where no action is taken either to reduce invasive plants or to expand habitats for at-risk species. A pragmatic solution to this dilemma may be to develop an approach that considers site-specific circumstances. We constructed a “discussion tree” as a means of initiating conversations among various stakeholders involved with managing habitats in the northeastern USA to benefit several at-risk taxa, including New England cottontails (Sylvilagus transitionalis). Major components of this approach include recognition that expanding some invaded habitats may be essential to prevent extirpation of at-risk species, and the effective control of invasive plants is dependent on knowledge of the status of invasives on managed lands and within the surrounding landscape. By acknowledging that management of invasive plants is a complex issue without a single solution, we may be successful in limiting their spread while still addressing critical habitat needs.     

The forgotten pillar: a definition for the measurement of social sustainability in American cities

This article provides a timely review of the interdisciplinary and disjointed literature on social sustainability and identifies some readily available measures of this concept for American cities. Based upon a comprehensive review of the literature, four broad dimensions are identified as being reflective of social sustainability: equal access and opportunity, environmental justice, community and the value of place, and basic human needs. Breaking these four dimensions into measurable indicators, this research provides a method for researchers and for American cities to begin to evaluate and to assess social sustainability efforts within their jurisdictions.