A technological breakthrough in non-invasive prenatal screening for DMD

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.


Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach. Zhao G, Wang X, Liu L, Dai P, Kong X. BMC Med Genomics. 2021 Nov 22;14(1):275.