Resumo Importante mediação de práticas culturais, a TV contribui na construção de representações sociais, incluindo a da ciência. Considerando que adolescentes são um dos seus principais públicos, visamos analisar de que forma os conteúdos televisivos podem contribuir para a construção de percepções sobre ciência nesses jovens. Realizamos 12 grupos focais com alunos de escolas públicas e privadas em três cidades brasileiras: Rio de Janeiro (RJ), Belo Horizonte (MG) e Belém (PA). Observamos que, embora estereótipos da ciência e dos cientistas tenham emergido nas discussões, os jovens demonstraram compreender a atividade científica de maneira mais aprofundada, assim como a própria programação televisiva.

Abstract Television is an important mediator of cultural practices and contributes to the construction of social representations, including representations of science. Considering that teenagers are a main target audience, here we analyze how TV content can help build perceptions of science among these young people. Twelve focus groups were held with students from public and private schools in three Brazilian cities: Rio de Janeiro, Belo Horizonte (Minas Gerais), and Belém (Pará). We observed that although stereotypes of science and scientists did emerge in the discussions, the students demonstrated a more detailed understanding of scientific activity, as well as the TV programming itself.

Abstract Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental genotype information. We analyzed 45 pregnancies, 40 mock samples, and eight mother-child pairs to generate 35 simulated datasets. Fetal fraction (FF) was estimated based on analysis of the single nucleotide polymorphism (SNP) allele fraction distribution. A Z-score was calculated for trisomy of chromosome 21 (T21), and fetal sex detection. Monogenic disease detection was performed through variant analysis. Model validation was performed using the simulated datasets. The novel model to estimate FF was robust and accurate (r2= 0.994, p-value < 2.2e-16). For samples with FF > 0.04, T21 detection had 100% sensitivity (95% CI: 63.06 to 100%) and 98.53% specificity (95% CI: 92.08 to 99.96%). Fetal sex was determined with 100% accuracy. We later performed a proof of concept for monogenic disease diagnosis of 5/7 skeletal dysplasia cases. In conclusion, it is feasible to perform a comprehensive NIPT by using only data from high coverage targeted sequencing, which, in addition to detecting trisomies, also make it possible to identify pathogenic variants of the candidate genes for monogenic diseases.