Concordance and pathogenicity of copy number variants detected by non-invasive prenatal screening in 38,611 pregnant women without fetal structural abnormalities

Yunyun Liu; Jing Wang; Ling Wang; Lin Chen; Dan Xie; Li Wang; Sha Liu; Jianlong Liu; Ting Bai; Xiaosha Jing; Cechuan Deng; Tianyu Xia; Jing Cheng; Lingling Xing; Xiang Wei; Yuan Luo; Quanfang Zhou; Ling Liu; Qian Zhu; Hongqian Liu

doi:10.1097/CM9.0000000000003449

Concordance and pathogenicity of copy number variants detected by non-invasive prenatal screening in 38,611 pregnant women without fetal structural abnormalities

Chin Med J (Engl). 2025 Jan 17. doi: 10.1097/CM9.0000000000003449. Online ahead of print.

Authors

Yunyun Liu^{1

2}, Jing Wang^{1

2}, Ling Wang^{2

3}, Lin Chen^{1

2}, Dan Xie^{1

2}, Li Wang^{1

2}, Sha Liu^{1

2}, Jianlong Liu^{1

2}, Ting Bai^{1

2}, Xiaosha Jing^{1

2}, Cechuan Deng^{1

2}, Tianyu Xia^{1

2}, Jing Cheng^{1

2}, Lingling Xing^{1

2}, Xiang Wei^{1

2}, Yuan Luo^{1

2}, Quanfang Zhou^{1

2}, Ling Liu⁴, Qian Zhu^{1

2}, Hongqian Liu^{1

2

4}

Affiliations

¹ Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610000, China.
² Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan 610000, China.
³ Departments of Ultrasound, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610000, China.
⁴ Prenatal Diagnostic Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China.

PMID: 39820083
DOI: 10.1097/CM9.0000000000003449

No abstract available