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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).

clinical chemistry and laboratory medicine (cclm)

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of  NF1  and  CFTR  mutations using droplet digital PCR