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| Status |
Public on Sep 27, 2023 |
| Title |
Ultrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele: a single tertiary center experience |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
|
| Summary |
Routine karyotyping combined with CMA testing should be provided for fetuses with omphalocele. WES is an option if karyotype and CMA tests are normal. In addition, if conventional karyotype, CMA detection and WES detection are normal, then further molecular biology methods can be used to rule out disease phenotypes like BWS syndrome.
We analyzed the ultrasonographic features, genetic characteristics, and maternal and fetal outcomes of fetuses with omphalocele and provide a reference for perinatal management of such cases.
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| |
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| Overall design |
Chromosomal analysis and chromosomal microarray analysis (CMA) were performed
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| |
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| Contributor(s) |
Que Y, Lin N |
| Citation(s) |
37726736 |
| |
| Submission date |
Jun 21, 2023 |
| Last update date |
Sep 28, 2023 |
| Contact name |
Yanting Que |
| E-mail(s) |
queyanting@outlook.com
|
| Organization name |
Fujian Medical University
|
| Street address |
No. 88, Jiaotong Road, Taijiang District, Fuzhou City, Fujian Province
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| City |
Fuzhou |
| ZIP/Postal code |
350100 |
| Country |
China |
| |
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| Platforms (1) |
| GPL18637 |
[CytoScan750K_Array] Affymetrix CytoScan 750K Array |
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| Samples (5)
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| Relations |
| BioProject |
PRJNA986051 |
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