State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions

Background

To analyze population-based trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) since the availability of non-invasive prenatal testing (NIPT).

Methods

Retrospective state-wide data for all prenatal diagnoses performed <25 weeks gestation from 2005 to 2020 in Victoria, Australia. Non-invasive prenatal testing became locally available from 2012. The prenatal diagnosis rates of SCA as proportions of all prenatal diagnostic tests and all births were calculated. Statistical significance was assessed with the χ² test for trend, with p < 0.05 considered significant.

Results

46,518 amniocentesis and chorionic villus sampling were performed during the study period, detecting 617 SCAs. There was a significant increase in the rate of prenatal SCAs from 5.8 per 10,000 births in 2005 to 8.7 per 10,000 births in 2020 (p < 0.0001). This increase was predominantly due to 47,XXY cases, 91% of which were ascertained via positive NIPT for this condition in 2020. The prenatal diagnosis rate of 47,XXY significantly increased from 0.8 per 10,000 births in 2005 to 4.3 per 10,000 births in 2020 (p < 0.0001).

Conclusion

Screening for SCAs using NIPT has directly led to an increase in their prenatal diagnosis on a population-wide basis, especially 47,XXY. This has implications for clinician education, genetic counselling, and pediatric services.     

An environmental assessment of a small shallow lake (Little Black Lake, MI) threatened by urbanization

A limnological survey was conducted of Little Black Lake, MI, and its tributaries during summer 2007. This small, shallow lake is located in a rapidly developing area of west Michigan. As such, our analytical approach and recommendations can serve as a model for other similar systems threatened by urbanization. Soluble reactive phosphorus and nitrate concentrations in both the inflows to (during baseflow) and Little Black Lake itself were low (??0.007 and ??270 mg/L, respectively). Nutrient concentrations increased during stormflow conditions, although the magnitude of the increase depended on the nutrient and sampling location. Macrophyte growth was extensive throughout most parts of the lake, with Chara and Potamogeton spp. present in most sites; based on the coefficient of conservatism, plant composition was indicative of good water quality conditions. Chlorophyll a concentration averaged 1.7 ??g/L in Little Black Lake, with cryptophytes and cyanobacteria being the most dominant members (by biovolume) of the phytoplankton community. The fish community in Little Black Lake was dominated by bluegill (Lepomis macrochirus) and pumpkinseed (L. gibbosus), with no invasive species observed. Overall, abiotic and biotic conditions indicate that Little Black Lake is in good ecological health despite increasing pressures of urbanization in its watershed. To maintain this status, it is recommended that the local municipalities develop a comprehensive watershed management plan and implement best management practices to limit nonpoint source pollutant loading to Little Black Lake.     

Contesting neoliberal knowledge politics in restoration governance: the restorationist’s dilemma

ABSTRACT

The success of ecological restoration efforts is tightly coupled with the effectiveness of many U.S. environmental policies. Yet scholars have raised questions about the ability of restoration to produce intended results. We use a case study of tidal wetland restoration planning in Oregon to examine how neoliberal environmental governance exercises influence through a set of knowledge politics that produces subpar outcomes. We present three main findings: (1) restoration policies produce a restoration economy based on a conception of wetland as commodity (2) practitioners in this restoration economy exhibit competitive behavior resulting in a piecemeal rather than a landscape approach to restoration; and (3) limited monitoring prevents changes to existing policies. Practitioners offer insight into the challenge of treating wetlands as a commodity and call for more monitoring to challenge the assumptions of hegemonic knowledge practices that reinforce a neoliberal environmental governance regime. The divergent ideas of reflexive practitioners, though not yet manifest as action, show where changes to restoration governance might be possible.