A new strategy for prenatal genetic screening of copy number variations in the DMD gene: A large cohort study based on NIPT analysis

Yan Wang; Yan Sun; Lulu Meng; Quanze He; Jingyu Zhao; Ran Zhou; Zhonghua Wang; Jianxin Tan; Dingyuan Ma; Linlin Fan; Yunmei Chen; Yuguo Wang; Zhu Jiang; Zhihong Qiao; Xiaojuan Wu; Binbin Shao; Ying Xue; Lijie Song; Ting Wang; Ping Hu; Zhengfeng Xu

doi:10.1002/ctm2.1706

Clinical and Translational Medicine ›› 2024, Vol. 14 ›› Issue (5) : e1706 DOI: 10.1002/ctm2.1706

LETTER TO THE JOURNAL

A new strategy for prenatal genetic screening of copy number variations in the DMD gene: A large cohort study based on NIPT analysis

Author information +

History +

PDF

Cite this article

Download citation ▾

Yan Wang, Yan Sun, Lulu Meng, Quanze He, Jingyu Zhao, Ran Zhou, Zhonghua Wang, Jianxin Tan, Dingyuan Ma, Linlin Fan, Yunmei Chen, Yuguo Wang, Zhu Jiang, Zhihong Qiao, Xiaojuan Wu, Binbin Shao, Ying Xue, Lijie Song, Ting Wang, Ping Hu, Zhengfeng Xu. A new strategy for prenatal genetic screening of copy number variations in the DMD gene: A large cohort study based on NIPT analysis. Clinical and Translational Medicine, 2024, 14(5): e1706 DOI:10.1002/ctm2.1706

登录浏览全文

4963

注册一个新账户忘记密码

References

Publishing order | Descend order by publishing year | Descend order by cited within

[1]	Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther. 2014;35(3):156-173.

[2]	Brison N, Storms J, Villela D, et al. Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening. Genet Med. 2019;21(12):2774-2780.

[3]	Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat. 2011;32(5):557-563.

[4]	Thangarajh M, Hendriksen J, McDermott MP, et al. Relationships between DMD mutations and neurodevelopment in dystrophinopathy. Neurology. 2019;93(17):e1597-e1604.

[5]	Passos-Bueno MR, Costa CIS, Zatz M. Dystrophin genetic variants and autism. Discov Ment Health. 2022;2(1):4.

[6]	Westemeyer M, Saucier J, Wallace J, et al. Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach. Genet Med. 2020;22(8):1320-1328.

[7]	Singer A, Aartsma-Rus A, Grinshpun-Cohen J, Sagi-Dain L. Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy. Genet Med. 2023;25(12):100981.

RIGHTS & PERMISSIONS

2024 The Author(s). Clinical and Translational Medicine published by John Wiley & Sons Australia, Ltd on behalf of Shanghai Institute of Clinical Bioinformatics.