Over the past decade, RHDO has been introduced into routine clinical use for NIPD of maternally inherited pathogenic variants for cystic fibrosis (CFTR)[36], spinal muscular atrophy (SMN1/SMN2)[37], and congenital adrenal hyperplasia (CYP21A2)[105], as well as for X-linked Duchenne and Becker muscular dystrophies (DMD)[34]. This evidence concerns the gene SMN1 and proximal spinal muscular atrophy.