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.
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Erschienen in
-
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)
- Urheber
-
Bian, Xinyi
Yang, Xiao
Shi, Xinwei
Zeng, Wanjiang
Deng, Dongrui
Chen, Suhua
Qiao, Fuyuan
Feng, Ling
Wu, Yuanyuan
- DOI
-
10.1515/biol-2022-0598
- URN
-
urn:nbn:de:101:1-2023051814042385230004
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:47 MESZ
Datenpartner
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Bian, Xinyi
- Yang, Xiao
- Shi, Xinwei
- Zeng, Wanjiang
- Deng, Dongrui
- Chen, Suhua
- Qiao, Fuyuan
- Feng, Ling
- Wu, Yuanyuan
Ähnliche Objekte (12)
Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing
Clinical advances in immunotherapy for immune-mediated glomerular diseases
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
Metabolic Syndrome and Mortality in Continuous Ambulatory Peritoneal Dialysis Patients: A 5-Year Prospective Cohort Study
Investigations of the staircase memristor model and applications of memristor-based local connections
An expanded phylogeny for the genus Phytophthora
Metabolic Syndrome and Mortality in Continuous Ambulatory Peritoneal Dialysis Patients: A 5-Year Prospective Cohort Study
Repeat-aware modeling and correction of short read errors
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center
Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
Whole-exome sequencing of a pedigree segregating asthma
Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing
Clinical advances in immunotherapy for immune-mediated glomerular diseases
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
Metabolic Syndrome and Mortality in Continuous Ambulatory Peritoneal Dialysis Patients: A 5-Year Prospective Cohort Study
Investigations of the staircase memristor model and applications of memristor-based local connections
An expanded phylogeny for the genus Phytophthora
Metabolic Syndrome and Mortality in Continuous Ambulatory Peritoneal Dialysis Patients: A 5-Year Prospective Cohort Study
Repeat-aware modeling and correction of short read errors
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center
Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
Whole-exome sequencing of a pedigree segregating asthma
Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing
Clinical advances in immunotherapy for immune-mediated glomerular diseases
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
Metabolic Syndrome and Mortality in Continuous Ambulatory Peritoneal Dialysis Patients: A 5-Year Prospective Cohort Study
Investigations of the staircase memristor model and applications of memristor-based local connections
An expanded phylogeny for the genus Phytophthora
Metabolic Syndrome and Mortality in Continuous Ambulatory Peritoneal Dialysis Patients: A 5-Year Prospective Cohort Study
Repeat-aware modeling and correction of short read errors
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center
Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases