The presence of foetal cells circulating in maternal blood theoretically enables, to detect gene abnormalities of all kinds, this research falling within the scope of non-invasive prenatal diagnosis. A Chinese team reports its experience concerning five foetuses suspected of having Duchenne muscular dystrophy (DMD) and thus screened using a more robust and less error-prone technique (cfBEST for cell-free DNA barcode-enabled single molecule test):
- the results obtained by this approach concerning the genotype were confirmed by a conventional invasive prenatal diagnosis;
- This technique is applicable both for point mutations of the DMD gene and for deletions.
