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Prenatal diagnosis

Molecular genetic and pregnancy outcomes of fetuses with increased Nuchal Translucency

Luoyuan Cao, Wenxu Dong, Xiaomin Huang, Qinjuan Wu, Jing Yang, Jiaojiao Lu, Pengsheng Lin, Xunyan Chen, Xian Zheng, Xiaomei Zeng, Xianguo Fu

published 07 Aug 2026

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Clinical application of fetal Nuchal Translucency combined with noninvasive prenatal testing in screening chromosome abnormalities

Guangzhen Fu, Shuang Hu

published 16 Mar 2026

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Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study

Han-Ying Chen, Yi-Ting Wang, Jessica Kang, Yi-Yun Tai, Ti-Jia Yuan, Shin-Yu Lin, Shi-Ming Lin, Chien-Nan Lee, Tsang-Ming Ko

published 02 Dec 2025

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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

published 28 Oct 2025

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Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation

Xiangmei Sun, Yuyi Ying, Caiping Chen, Xiaoliang Shi

published 08 Oct 2025

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Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples

Li Wen, Yanzhen Zhang, Wen Zhang, Aifen Mao, Xiangjuan Li

published 18 Sep 2025

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Hematological analysis of alpha-thalassemia: A single-center, retrospective clinical study

Lin Zheng, Nuolan Yin, Meiying Wang, Hailong Huang, Na Lin, Shuyu Zhang, Linjuan Su, Liangpu Xu

published 04 Aug 2025

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Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing

Zuzana Holesova, Jaroslav Budis, Marcel Kucharik, Juraj Gazdarica, Daria Carska, Gabriel Minarik, Michaela Hyblova, Tomas Szemes

published 11 Jul 2025

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The impact of psychological distance on preferences for prenatal screening and diagnosis for chromosomal abnormalities: A hierarchical Bayes analysis of a discrete choice experiment

Tima Mohammadi, Wei Zhang, Aslam H. Anis

published 23 May 2025

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A retrospective analysis of prenatal genetic results in fetal hydronephrosis

Keqin Jin, Xiayuan Xu, Yue Qian, Liping Zhang, Min Hu, Jianfeng Luo

published 22 May 2025

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Karyotyping with amniotic fluid in 6,572 pregnant women and pregnancy outcomes——A single-center retrospective study

Shiyu Wei, Yuan Yuan, Suhua Tu, Chunrong Pang, Maomei Chen, Min Ren

published 20 May 2025

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A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy

Vanessa Bacal, Angela Li, Heather Shapiro, Urvi Rana, Rhonda Zwingerman, Lisa Avery, Alina Palermo, Eleni Philipoppolous, Crystal Chan

published 14 May 2025

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Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies

Shaozhe Yang, Yuan Zhuang, Junfeng Li, Xiuhong Fu

published 24 Jan 2025

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