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

Abstract

We report an NIPD protocol suitable for implementation in an experienced laboratory of molecular genetics. Our proof-of-principle results point out a high accuracy for early detection of paternal NF1 and CFTR mutations in cell-free DNA, and open new perspectives for extending the technology to NIPD of many other monogenic diseases.