ArticleAnnals of medicine2021
Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing.
Article in Annals of medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.Prenatal diagnosis · 2026Article
- ERNICA evidence based guideline on omphalocele.Orphanet journal of rare diseases · 2026Review
- Omphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations-A Literature Review.Diagnostics (Basel, Switzerland) · 2025Review
- Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities.Przeglad menopauzalny = Menopause review · 2024Review
- Genome sequencing as a generic diagnostic strategy for rare disease.Genome medicine · 2024Article
- Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.Frontiers in genetics · 2024Article
- Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.BMC medical genomics · 2023Article
- Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.Molecular genetics & genomic medicine · 2023Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
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Authors and funding
6 authors.
Funding
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Abstract
objectivesThe 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).
methodsIn 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.
resultsFifty-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)
conclusionsThe 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.
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