American Journal of Medical Genetics Part AVolume 170, Issue 3 p. 557-557 the AJMG SEQUENCE: Decoding News and Trends for the Medical Genetics Community by Deborah LevensonFree Access Noninvasive prenatal testing spots duchenne muscular dystrophy First published: 17 February 2016 https://doi.org/10.1002/ajmg.a.37591AboutSectionsPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat For the first time, researchers have employed a haplotype-assisted method using cell-free fetal DNA circulating in mothers' blood to prenatally diagnose the X-linked disorder Duchenne muscular dystrophy (DMD). Noninvasive prenatal tests (NIPTs) that use cell-free fetal DNA are now used clinically to screen for extra fetal copies of chromosomes 13, 18, and 21. However, using these tests to prenatally screen for single-gene disorders has been challenging because most of the DNA in the maternal plasma is derived from the mother. Writing in Genetics in Medicine, researchers from China and Denmark describe how their haplotype-assisted strategy combined deep sequencing of multiple blood samples (Xu et al., 2015). Samples were obtained from both fathers and their sons diagnosed with DMD. Samples were also taken from maternal plasma so that the fetal haplotype could be deduced using a mathematical model with the assistance of the parental haplotypes deduced from the boys' samples. On average, results from eight families showed an accuracy of 99.98% for the total inferred maternal single nucleotide polymorphisms (SNPs). With a mean depth of 30× achieved in the 10 Mb target region of each sample, the researchers achieved diagnostic accuracy consistent with amniocentesis used to confirm results. While most studies have focused on demonstrating the feasibility of NIPT for single-gene disorders in case reports, this study is the first to perform NIPT in parallel with invasive prenatal diagnosis in a small pilot sample, say researchers. With further improvements in accuracy, this haplotype- based strategy could be feasible with NIPT for DMD or other X-linked single-gene disorders, the researchers conclude. Reference Xu Y, Li X, Ge HJ, Xiao B, Zhang YY, Ying XM, Pan XY, Wang L, Xie WW, Ni L, Chen SP, Jiang WT, Liu P, Ye H, Cao Y, Zhang JM, Liu Y, Yang ZJ, Chen YW, Chen F, Jiang H, Ji X. 2015. Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma. Genet Med 17(11): 889– 896. Volume170, Issue3March 2016Pages 557-557 ReferencesRelatedInformation