Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
Abstract: This study introduced whole-exome sequencing (WES) in prenatal diagnosis of fetal bowel dilatation to improve the detection outcome when karyotype analysis and copy number variation sequencing (CNV-seq) were uninformative in detecting pathogenic variants. The work reviewed 28 cases diagnosed with fetal bowel dilatation and analyzed the results of karyotype analysis, CNV-seq, and WES. Among the 28 cases, the detection rate in cases with low risk of aneuploidy was 11.54% (3/26), which is lower than 100% (2/2) in cases with high risk of aneuploidy. Ten low-risk aneuploidy cases with isolated fetal bowel dilatation had normal genetic testing results, while the remaining 16 cases with other ultrasound abnormalities were detected for genetic variants at a rate of 18.75% (3/16). The detection rate of gene variation was 3.85% (1/26) by CNV-seq and 7.69% (2/26) by WES. This study suggested that WES could reveal more genetic risk in prenatal diagnosis of fetal bowel dilatation and has value in prenatal diagnosis to reduce birth defects.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation ; volume:18 ; number:1 ; year:2023 ; extent:7
Open life sciences ; 18, Heft 1 (2023) (gesamt 7)
- Creator
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Bian, Xinyi
Yang, Xiao
Shi, Xinwei
Zeng, Wanjiang
Deng, Dongrui
Chen, Suhua
Qiao, Fuyuan
Feng, Ling
Wu, Yuanyuan
- DOI
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10.1515/biol-2022-0598
- URN
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urn:nbn:de:101:1-2023051814042385230004
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:47 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Bian, Xinyi
- Yang, Xiao
- Shi, Xinwei
- Zeng, Wanjiang
- Deng, Dongrui
- Chen, Suhua
- Qiao, Fuyuan
- Feng, Ling
- Wu, Yuanyuan
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