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Open Access

Peer-reviewed

Research Article

Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies

Shiwei Ren,

Roles Writing – original draft

Affiliation School of Clinical Medicine, Jining Medical University, Jining, Shandong, China
⨯
Wenjing Gu,

Roles Data curation, Investigation

Affiliation Department of Clinical Laboratory, Affiliated Hospital of Jining Medical University, Jining, Shandong, China
⨯
Ting Liu,

Roles Data curation

Affiliation Department of Clinical Laboratory, Affiliated Hospital of Jining Medical University, Jining, Shandong, China
⨯
Jinyan Yan,

Roles Data curation, Project administration

Affiliation Department of Clinical Laboratory, Affiliated Hospital of Jining Medical University, Jining, Shandong, China
⨯
Haixin Dong,

Roles Data curation, Formal analysis

Affiliation Department of Clinical Laboratory, Affiliated Hospital of Jining Medical University, Jining, Shandong, China
⨯
Chuchu Niu,

Roles Data curation

Affiliation School of Clinical Medicine, Jining Medical University, Jining, Shandong, China
⨯
Lizhu Guo ,

Roles Writing – review & editing

* E-mail: huankwo@hotmail.com (HG); glz19@163.com (LG)

Affiliation Department of Obstetrics, Affiliated Hospital of Jining Medical University, Jining, Shandong, China
⨯
Huan Guo

Roles Formal analysis, Writing – review & editing

* E-mail: huankwo@hotmail.com (HG); glz19@163.com (LG)

Affiliation Department of Clinical Laboratory, Affiliated Hospital of Jining Medical University, Jining, Shandong, China

https://orcid.org/0000-0003-0451-5688

⨯

Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies

Shiwei Ren,
Wenjing Gu,
Ting Liu,
Jinyan Yan,
Haixin Dong,
Chuchu Niu,
Lizhu Guo,
Huan Guo

x

Published: October 28, 2025
https://doi.org/10.1371/journal.pone.0334445

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Pregnancy
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Ultrasound imaging
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Karyotypes
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Assisted reproductive technology
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Copy number variation
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Prenatal diagnosis
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Growth restriction
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Microarrays
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