Since, the repertoire of monogenic disorders that can be tested for using NIPD has increased to include FGFR2- and FGFR3-related syndromes [34–37], cystic fibrosis (CF) [38,39], spinal muscular atrophy (SMA), Duchenne and Becker muscular dystrophies (DMD, BMD) [40–42], as well as bespoke testing for families with rare mutations [43] (Figures 1 and 2). This evidence concerns the gene FGFR2 and proximal spinal muscular atrophy.