A study conducted in ten hospitals found that NIPT (Non-Invasive Prenatal Screening Test), was safer, more accurate and more effective in detecting chromosomal abnormalities in unborns, compared to conventional marker tests and ultrasound studies.
Down's syndrome, also known as trisomy 21, is one of the most common genetic diseases. Researchers from the University of Geneva (UNIGE) and ETH Zurich (ETHZ), Switzerland, have recently analysed the proteins of individuals with trisomy 21 for the first time: the goal was to improve our understanding of how a supernumerary copy of chromosome 21 could affect human development. Published in the journal Nature Communications, the research shows that trisomy 21, far from only affecting the proteins encoded by the chromosome 21 genes, also impacts on the proteins encoded by the genes located on the other chromosomes.
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