Cell-based NIPT for repeat expansion disorders has previously been demonstrated by Toft et al. (2021) in two cases to confirm an unaffected fetus following PGT for myotonic dystrophy type 1 and Fragile-X syndrome, the latter caused by repeat expansions in FMR1 on chromosome X. These combined results demonstrate the potential of circulating EVTs for NIPT of repeat expansion disorders. Here, FMR1 is linked to myotonic dystrophy type 1.