Detection efficacy of non-invasive prenatal testing for copy number variations in the recurrent 17p12 region

Detection efficacy of non-invasive prenatal testing for copy number variations in the recurrent 17p12 region

Objective·To evaluate the detection efficacy and clinical value of non-invasive prenatal testing (NIPT) for identifying copy number variations (CNVs) in the recurrent 17p12 region, including the peripheral myelin protein 22 (PMP22) gene.Methods·Pregnant women who underwent NIPT in the International...

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Bibliographic Details
Main Authors: ZHANG Lanlan, HAN Xu, LI Niu, WANG Jian, LI Shuyuan
Format: Article
Language:zho
Published: Editorial Office of Journal of Shanghai Jiao Tong University (Medical Science) 2025-03-01
Series:Shanghai Jiaotong Daxue xuebao. Yixue ban
Subjects:
non-invasive prenatal testing (nipt)
17p12 recurrent region
copy number variation (cnv)
hereditary neuropathy with liability to pressure palsies (hnpp)
charcot-marie-tooth disease, type 1a (cmt1a)
Online Access:https://xuebao.shsmu.edu.cn/CN/10.3969/j.issn.1674-8115.2025.03.007
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https://xuebao.shsmu.edu.cn/CN/10.3969/j.issn.1674-8115.2025.03.007

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