The current standard of care for fetal genetic testing requires an invasive medical procedure such as amniocentesis to survey individual DNA changes in the fetal genome. Here, the Talkowski laboratory has developed a new technology that enables pregnant persons to screen the protein-coding sequence of all genes in the fetal genome from a simple blood test early in pregnancy. The method – called non-invasive fetal sequencing (NIFS) – was described in a study led by Harrison Brand, Chris Whelan, Michael Duyzund, and Kathryn Gray (BWH) and could offer comprehensive genetic information early in pregnancy to limit the need for invasive prenatal testing. With NIFS, we can survey the fetal exome, discover sequence changes, and interpret variants that could inform healthcare management throughout the lifespan. Learn more here or read the full publication in the New England Journal of Medicine.
