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Objectives
Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell-based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants.Methods
Blood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27. Cystic fibrosis testing was conducted using two different methods: by fragment length analysis and by our newly developed NGS-based CF analysis.Results
In all 27 cases, cell-based NIPT provided a result using both methods in agreement with the invasive test result.Conclusion
This study shows that cell-based NIPT for CF screening provides a reliable result without the need for partner- and proband samples. 相似文献Energy and environmental issues have triggered the search for new sources of green energy alternatives in recent years. Biofuel production from renewable sources is widely considered one of the most sustainable alternatives for environmental and economic sustainability. Microalgae are currently being promoted as one of the most promising liquid biofuel feedstocks due to their rapid growth, high lipid production capacity, and carbon–neutral cycle. In this study, whole microalgae cells were utilized as raw material to produce solid biofuel, i.e., Bio-Coke, and this study aimed to investigate the possibility of microalgae Bio-Coke as an alternative to coal coke. The results show that Bio-Coke can be produced from microalgae in the temperature range of 80–100 °C. The apparent density is between 1.253 and 1.261 g/cm3, comparable to the apparent density of lignocellulosic Bio-Coke. Additionally, the calorific value is higher than the calorific value of lignocellulosic Bio-Coke and within the range of the calorific value of subbituminous coal. Therefore, microalgae Bio-Coke can be utilized to replace coal coke usage in the future.
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