Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing
AbstractObjectives The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome sequencing (WES).Methods In this retrospective study, 81 cases of omphalocele were identified from 2015 to 2020. Associat...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2021-01-01
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| Series: | Annals of Medicine |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/07853890.2021.1962966 |
| _version_ | 1827579197423353856 |
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| author | Xiaomei Shi Hui Tang Jian Lu Xiue Yang Hongke Ding Jing Wu |
| author_facet | Xiaomei Shi Hui Tang Jian Lu Xiue Yang Hongke Ding Jing Wu |
| author_sort | Xiaomei Shi |
| collection | DOAJ |
| description | AbstractObjectives The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome sequencing (WES).Methods In this retrospective study, 81 cases of omphalocele were identified from 2015 to 2020. Associated anomalies and prenatal diagnosis based on karyotyping, CMA and WES were analysed.Results Fifty-eight (71.6%) of the 81 foetuses had other ultrasound anomalies. Giant omphalocele was present in 11 cases (13.6%) and small omphalocele was present in 70 cases (86.4%). Chromosomal abnormalities were found in 24 foetuses (29.6%, 24/81), the most common of which were trisomy 18 (58.8%, 11/24) and trisomy 13 (29.2%, 7/24). Compared to isolated omphalocele, non-isolated omphalocele was accompanied by an increased prevalence of chromosomal abnormalities (4.3% (1/23) vs. 39.7% (23/58), χ2 = 8.226, p = .004). All chromosomal abnormalities were found in small omphalocele. Aside from aneuploidy, CMA showed one pathogenic copy number variants (CNVs) for a detection rate of 1.2%, one variants of unknown significance (VOUS) and one instance of loss of heterozygosity (LOH). WES was performed on 3 non-isolated cases, and one was found to have pathogenic variants.Conclusions The most common genetic cause of omphalocele is aneuploidy and the prevalence of chromosomal abnormalities is increased with non-isolated and small omphalocele. CMA and WES can be useful for providing further genetic information to assist in prenatal counselling and pregnancy management. |
| first_indexed | 2024-03-08T21:58:15Z |
| format | Article |
| id | doaj.art-a1c8947aa4a741639387eadee8b89fb2 |
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| issn | 0785-3890 1365-2060 |
| language | English |
| last_indexed | 2024-03-08T21:58:15Z |
| publishDate | 2021-01-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Annals of Medicine |
| spelling | doaj.art-a1c8947aa4a741639387eadee8b89fb22023-12-19T16:46:27ZengTaylor & Francis GroupAnnals of Medicine0785-38901365-20602021-01-015311286129210.1080/07853890.2021.1962966Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencingXiaomei Shi0Hui Tang1Jian Lu2Xiue Yang3Hongke Ding4Jing Wu5Gentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, PR ChinaGentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, PR ChinaGentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, PR ChinaGentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, PR ChinaGentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, PR ChinaGentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, PR ChinaAbstractObjectives The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome sequencing (WES).Methods In this retrospective study, 81 cases of omphalocele were identified from 2015 to 2020. Associated anomalies and prenatal diagnosis based on karyotyping, CMA and WES were analysed.Results Fifty-eight (71.6%) of the 81 foetuses had other ultrasound anomalies. Giant omphalocele was present in 11 cases (13.6%) and small omphalocele was present in 70 cases (86.4%). Chromosomal abnormalities were found in 24 foetuses (29.6%, 24/81), the most common of which were trisomy 18 (58.8%, 11/24) and trisomy 13 (29.2%, 7/24). Compared to isolated omphalocele, non-isolated omphalocele was accompanied by an increased prevalence of chromosomal abnormalities (4.3% (1/23) vs. 39.7% (23/58), χ2 = 8.226, p = .004). All chromosomal abnormalities were found in small omphalocele. Aside from aneuploidy, CMA showed one pathogenic copy number variants (CNVs) for a detection rate of 1.2%, one variants of unknown significance (VOUS) and one instance of loss of heterozygosity (LOH). WES was performed on 3 non-isolated cases, and one was found to have pathogenic variants.Conclusions The most common genetic cause of omphalocele is aneuploidy and the prevalence of chromosomal abnormalities is increased with non-isolated and small omphalocele. CMA and WES can be useful for providing further genetic information to assist in prenatal counselling and pregnancy management.https://www.tandfonline.com/doi/10.1080/07853890.2021.1962966Omphaloceleprenatal diagnosiskaryotypingchromosomal microarray analysiswhole-exome sequencing |
| spellingShingle | Xiaomei Shi Hui Tang Jian Lu Xiue Yang Hongke Ding Jing Wu Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing Annals of Medicine Omphalocele prenatal diagnosis karyotyping chromosomal microarray analysis whole-exome sequencing |
| title | Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing |
| title_full | Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing |
| title_fullStr | Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing |
| title_full_unstemmed | Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing |
| title_short | Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing |
| title_sort | prenatal genetic diagnosis of omphalocele by karyotyping chromosomal microarray analysis and exome sequencing |
| topic | Omphalocele prenatal diagnosis karyotyping chromosomal microarray analysis whole-exome sequencing |
| url | https://www.tandfonline.com/doi/10.1080/07853890.2021.1962966 |
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