Because of this, ddPCR was applied to NIPD for the detection of paternal or de novo disease-causing mutations including achondroplasia (FGFR3) and neonatal diabetes (KCNJ11) (Orhant et al., 2016; Perlado et al., 2016; De Franco et al., 2017). This evidence concerns the gene FGFR3 and achondroplasia.