Butyltin compounds and their relation with organic matter in marine sediments from San Vicente Bay—Chile

Tributyltin and its degradation products, mono-and dibutyltin have been determined in sediments collected in some representative sites in San Vicente Bay, Chile. The organic matter contents of sediments and water collected simultaneously from the same sampling sites were also determined. High levels of total organic carbon were found in sediments, especially in those from the northern part of the bay (1.80-8.87%). Good correlations were found between total organic carbon and the oxidizable and refractory carbon fractions. Among the butyltin species determined, TBT presented the highest levels, ranging from 14 to 1,560 ng Sn g(-1) dry weight. Concentration ratios of TBT to DBT ranged between 1.33 and 3.10, showing a high degree of contamination in sediments of this Chilean bay. All data obtained were analysed by the chemometric method of principal components analysis. A strong correlation was found between TBT and DBT concentrations in sediments, the different organic matter contents in sediments and water. In marine organisms only TBT was detected, containing the filterer organism Semele solida higher level than Perumytilus purpuratus and Pyura chilensis (220, 150 and 120 ng Sn g(-1) dry weight, respectively). For the alga Rodoficea iridae the TBT concentration was 60 ng Sn g(-1) dw. Comparatively, these values are higher than those reported for the same kind of marine organisms worldwide. The different samples from San Vicente Bay were found to be contaminated by TBT. This contamination can be attributed to the different anthropogenic activities taking place in the bay.     

Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants

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.