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.     

Syndromic associations with congenital anomalies of the fetal thorax and abdomen

Anomalies of the thorax and abdomen can be found in a number of genetic syndromes. Whilst it may not be possible to make a definitive diagnosis before birth, knowledge of the potential associations can be useful for the prenatal diagnostician when examining the fetus and counselling the parents. In this article, we describe conditions where other features may be detectable using prenatal ultrasound. We describe the features, potential diagnostic aids and prognosis. The tables list other potential features that may be identified. The range of conditions that can occur emphasises the value of genetic input in the management of a fetus with an apparently normal karyotype and multiple anomalies, the need to save material for future molecular analysis and the requirement of a detailed examination after delivery. These are needed in order to make accurate diagnoses and advise parents with regard to recurrence risks and the potential for prenatal diagnosis in future pregnancies. Copyright © 2008 John Wiley & Sons, Ltd.     

How do I like thee? Let me appraise the ways

This study examined the effect of leader-member exchange (LMX) on the relationship between employee performance (measured objectively) and the supervisor's rating of that performance. To date, no field study has tested whether high and low LMX members receive differential ratings based on their LMX relationship, beyond their actual performance. Data were collected from employees (directory assistants, cable technicians, and dispatch clerks) and their supervisors in a telephone company. The objective measures of performance which were available for these jobs were related to supervisory ratings of performance for high and low LMX employees. The results showed that poorly performing high LMX employees were given high performance ratings, regardless of their actual performance. The ratings of low LMX employees were consistent with their actual performance. The effect of LMX was more pronounced with more general task and relationship rating categories. Alternative explanations of the results, as well as the theoretical and practical implications for performance appraisal and LMX research, were discussed.     

Pregnancy as a source of bias in performance appraisals

Notwithstanding recent gains, women have still not achieved parity with men in the workplace. This is further complicated by common negative images of pregnant women (Taylor and Langer, 1977). The present study investigated (1) stereotypes about pregnant working women, and (2) the effect of an employee's pregnancy on performance evaluation. In the first study, subjects' attitudes about pregnant employees were assessed via questionnaire. Substantial negative stereotyping was found to exist, especially among males. In Study 2, subjects viewed videotapes of either a pregnant or a non-pregnant women doing assessment-center-type tasks and were asked to evaluate her performance. When the employee was pregnant, she was consistently rated lower compared to when she was non-pregnant. A main effect of rater sex and a rater sex by pregnancy condition interaction were found, indicating that males assigned lower ratings than females and were also more negatively affected by the pregnancy condition. Implications for organizational policy regarding employee pregnancy and performance appraisal systems are discussed.     

Monitoring Parks Through Remote Sensing: Studies in Nepal and Honduras

The effectiveness of parks as management regimes is hotly contested. Much of the current discussion centered around comparisons of management regimes can be traced to a dearth of cross-site quantitative evaluations. Remote sensing provides a particularly effective tool for this purpose, yet analysis of remotely sensed data requires fieldwork to interpret human activities and the socioeconomic and political contexts that relate to land cover change. This paper examines the effect of establishment of the Celaque National Park, Honduras, and the Royal Chitwan National Park buffer zone, Nepal, on limiting deforestation. In Celaque, the park itself has been largely successful in maintaining forest cover. However, recent changes in land use patterns have led to increasing pressure on the park boundaries, exacerbated by the lack of involvement of local residents. In the Royal Chitwan National Park, in contrast, participatory approaches towards co-management have been implemented over the past decade in the park buffer zone. With significant incomes derived from ecotourism, complete protection of the buffer zone forest has been adopted, leading to significant regrowth of tree cover. However, local decision-making power is limited, and buffer zone management has largely proven successful due to the investment and support provided by international donor agencies. These two case studies demonstrate the utility of remote sensing and Geographical Information Systems analysis in providing a spatiotemporal perspective for assessing management policies. They also demonstrate the importance of fieldwork to provide a nuanced understanding of the socioeconomic and institutional conditions affecting the outcomes of forest management regimes.     

Home based workers at risk: Outworkers and occupational health and safety

Outwork is work done for payment at, about or from home. Outworkers generally work under conditions which are less favourable that those of their counterparts doing similar work ‘on site’. There are significant occupational health and safety issues associated with outwork. Terms and conditions of work (e.g. rate of pay, hours of work, degree of worker control over the work process, legislative coverage etc.) will significantly influence health and safety outcomes for outworkers. The paper addresses these more general issues as well as detailing specific workplace hazards and injuries, and other health impacts arising from the work.     

Dialdehyde starch and zein plastic: Mechanical properties and biodegradability

Dialdehyde starch (DAS) and zein, a hydrophobic corn protein, were investigated to produce biodegradable plastics with improved water resistance and mechanical properties. In the study, dialdehyde starch and zein ratio, plasticizers, and degree of starch oxidation were examined. Increased molding temperature and level of starch oxidation decreased water absorption of the plastic. Tensile strength and Young's modulus increased with starch oxidation. The biodegradation of starting materials and ground plastic specimens was studied in aerobic soil reactors maintained at 25°C for 180 days. Biodegradation of corn starch, zein, and dialdehyde starch for 180 days produced CO₂ equivalent to 64, 63, and 10% of theoretical carbon, respectively. Specimens of molded DAS and zein (3 : 1) plastic showed accelerated CO₂ evolution compared to DAS and other raw materials alone. By 180 days, specimens made with starch of low oxidation (1 and 5% oxidized) demonstrated a 60% biodegradation, and specimens with highly oxidized starch (90% oxidized) achieved 37% biodegradation.Paper presented at the Bio/Environmentally Degradable Polymer Society—Third National Meeting, June 6–8, 1994, Boston, Massachusetts.Journal Paper J-15927 of the Iowa Agriculture and Home Economics Experiment Station, Ames, Project No. 3258.     

Environmental monitoring of carbaryl applied in urban areas to control the glassy-winged sharpshooter in California

Carbaryl insecticide was applied by ground spray to plants in urban areas to control a serious insect pest the glassy-winged sharpshooter, Homalodisca coagulata (Say), newly introduced inCalifornia. To assure there are no adverse impacts to human health and the environment from the carbaryl applications, carbaryl was monitored in tank mixtures, air, surface water, foliage and backyard fruits and vegetables.Results from the five urban areas – Porterville, Fresno, Rancho Cordova, Brentwood and Chico – showed there were no significanthuman exposures or impacts on the environment. Spray tank concentrations ranged from 0.1–0.32%. Carbaryl concentrationsin air ranged from none detected to 1.12 g m^-3, well below the interim health screening level in air of 51.7 g m^-3. There were three detections of carbaryl in surface water nearapplication sites: 0.125 ppb (parts per billion) from a water treatment basin; 6.94 ppb from a gold fish pond; and 1737 ppbin a rain runoff sample collected from a drain adjacent to a sprayed site. The foliar dislodgeable residues ranged from 1.54–7.12 g cm^-2, comparable to levels reported forsafe reentry of 2.4 to 5.6 g cm^-2 for citrus. Carbarylconcentrations in fruits and vegetables ranged from no detectableamounts to 7.56 ppm, which were below the U.S.EPA tolerance, allowable residue of 10 ppm.     

Processing and Physical Properties of Plastics Made from Soy Protein Polyester Blends

Blending soy protein with polyesters using a polyvinyllactam as a compatibilizer successfully made soy protein-based plastics. The polyesters used to produce blends included polycaprolactone (PCL) and Biomax (a commercial biodegradable polyester). The blends were processed by compounding extrusion and injection molding. Blends containing soy protein/Biomax-poly(vinyl alcohol) had tensile strengths ranging from 16–22 MPa, with samples containing larger percentages of the synthetic polymer exhibiting greater strengths. Blends made from soy protein, Biomax, and PCL had tensile strengths ranging from 27–33 MPa. All the blends had high Young's moduli but demonstrated brittle characteristics as evident from their low elongations at break, ranging from 1.8–3.1%. Plastics made from soy protein/polyester blends exhibited low water absorption and had good stability under ambient conditions relative to the plastics made from soy protein alone. Blends made from soy protein flour produced plastics with the lowest water absorption.