Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing
Abstract A prospective analysis investigating the associations between pathogenic copy number variations (pCNVs) and ultrasound soft markers (USMs) in fetuses and evaluating the clinical value of copy number variation sequencing (CNV-seq) in such pregnancy studies was carried out. 3,398 unrelated Ch...
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Nature Portfolio
2018
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oai:doaj.org-article:c04a9775f08a4724ba2f2486a69aa05e2021-12-02T15:08:25ZIdentification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing10.1038/s41598-018-26555-62045-2322https://doaj.org/article/c04a9775f08a4724ba2f2486a69aa05e2018-05-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-26555-6https://doaj.org/toc/2045-2322Abstract A prospective analysis investigating the associations between pathogenic copy number variations (pCNVs) and ultrasound soft markers (USMs) in fetuses and evaluating the clinical value of copy number variation sequencing (CNV-seq) in such pregnancy studies was carried out. 3,398 unrelated Chinese women with singleton pregnancies and undergone amniocentesis at 18–36 weeks of gestation for fetal CNV-seq were included. According to the prenatal fetal ultrasound screening results, the samples were divided into 3 groups: normal ultrasound (n = 2616), solitary USM (n = 663), and two or more USMs (n = 119). CNV-seq was performed successfully using all samples. The prevalence of pCNVs in fetuses with normal ultrasound and USMs was 3.03% (79/2616) and 2.94% (23/782), respectively. The risk of segmental aneuploidies was significantly higher in the two or more USMs group (5/119, 4.20%) than in the normal ultrasound (27/2616, 1.04%) or solitary USM (9/663, 1.36%) groups (p = 0.002 and p = 0.031, respectively). Assuming that the resolution of karyotyping is ~5 Mb, a cytogenetic analysis would miss 33 of 102 (32.35%) pCNVs in these samples. Our results suggest an association between pCNVs and fetal USMs; multiple USMs indicate an increased risk of fetal segmental aneuploidies. In prenatal diagnostic testing, CNV-Seq identified additional, clinically significant cytogenetic information.Jing WangLin ChenCong ZhouLi WangHanbing XieYuanyuan XiaoDaishu YinYang ZengFeng TangYunyuan YangHongmei ZhuXinlian ChenQian ZhuZhiying LiuHongqian LiuNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-7 (2018) |
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Medicine R Science Q Jing Wang Lin Chen Cong Zhou Li Wang Hanbing Xie Yuanyuan Xiao Daishu Yin Yang Zeng Feng Tang Yunyuan Yang Hongmei Zhu Xinlian Chen Qian Zhu Zhiying Liu Hongqian Liu Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing |
| description |
Abstract A prospective analysis investigating the associations between pathogenic copy number variations (pCNVs) and ultrasound soft markers (USMs) in fetuses and evaluating the clinical value of copy number variation sequencing (CNV-seq) in such pregnancy studies was carried out. 3,398 unrelated Chinese women with singleton pregnancies and undergone amniocentesis at 18–36 weeks of gestation for fetal CNV-seq were included. According to the prenatal fetal ultrasound screening results, the samples were divided into 3 groups: normal ultrasound (n = 2616), solitary USM (n = 663), and two or more USMs (n = 119). CNV-seq was performed successfully using all samples. The prevalence of pCNVs in fetuses with normal ultrasound and USMs was 3.03% (79/2616) and 2.94% (23/782), respectively. The risk of segmental aneuploidies was significantly higher in the two or more USMs group (5/119, 4.20%) than in the normal ultrasound (27/2616, 1.04%) or solitary USM (9/663, 1.36%) groups (p = 0.002 and p = 0.031, respectively). Assuming that the resolution of karyotyping is ~5 Mb, a cytogenetic analysis would miss 33 of 102 (32.35%) pCNVs in these samples. Our results suggest an association between pCNVs and fetal USMs; multiple USMs indicate an increased risk of fetal segmental aneuploidies. In prenatal diagnostic testing, CNV-Seq identified additional, clinically significant cytogenetic information. |
| format |
article |
| author |
Jing Wang Lin Chen Cong Zhou Li Wang Hanbing Xie Yuanyuan Xiao Daishu Yin Yang Zeng Feng Tang Yunyuan Yang Hongmei Zhu Xinlian Chen Qian Zhu Zhiying Liu Hongqian Liu |
| author_facet |
Jing Wang Lin Chen Cong Zhou Li Wang Hanbing Xie Yuanyuan Xiao Daishu Yin Yang Zeng Feng Tang Yunyuan Yang Hongmei Zhu Xinlian Chen Qian Zhu Zhiying Liu Hongqian Liu |
| author_sort |
Jing Wang |
| title |
Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing |
| title_short |
Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing |
| title_full |
Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing |
| title_fullStr |
Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing |
| title_full_unstemmed |
Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing |
| title_sort |
identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing |
| publisher |
Nature Portfolio |
| publishDate |
2018 |
| url |
https://doaj.org/article/c04a9775f08a4724ba2f2486a69aa05e |
| work_keys_str_mv |
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