Article
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Clinical chemistry and laboratory medicine - 25 Apr 2018
Gruber Aurélia, Pacault Mathilde, El Khattabi Laila Allach, Vaucouleur Nicolas, Orhant Lucie, Bienvenu Thierry, Girodon Emmanuelle, Vidaud Dominique, Leturcq France, Costa Catherine, Letourneur Franck, Anselem Olivia, Tsatsaris Vassilis, Goffinet François, Viot Géraldine, Vidaud Michel, Nectoux Juliette
Abstract excerpt
BACKGROUND: To limit risks of miscarriages associated with invasive procedures of current prenatal diagnosis practice, we aim to develop a personalized medicine-based protocol for non-invasive prenatal diagnosis (NIPD) of monogenic disorders relying on the detection of paternally inherited mutations in maternal blood using droplet digital PCR (ddPCR). METHODS: This study included four couples at risk of...
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