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| Status |
Public on Dec 24, 2020 |
| Title |
Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
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| Summary |
This study aimed to evaluate the clinical value of copy number variations (CNVs) in fetuses with ultrasonic soft markers. Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent single nucleotide polymorphism (SNP) array analysis. Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. No significant difference was found in the rate of abnormal CNVs among the groups. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.
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| Overall design |
1131 fetuses underwent single nucleotide polymorphism (SNP) array analysis, and the SNP array identified 6.1% (69/1131) abnormal CNVs.
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| Contributor(s) |
Cai M, Huang H |
| Citation(s) |
32858251, 34285689 |
| Submission date |
Dec 23, 2020 |
| Last update date |
Jul 28, 2021 |
| Contact name |
Hailong Huang |
| Organization name |
Fujian Maternity and Child Health Hospital
|
| Street address |
No.18 Daoshan Road, Gulou District
|
| City |
Fuzhou |
| State/province |
Fujian |
| ZIP/Postal code |
350001 |
| Country |
China |
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| Platforms (1) |
| GPL18637 |
[CytoScan750K_Array] Affymetrix CytoScan 750K Array |
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| Samples (23)
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| Relations |
| BioProject |
PRJNA687566 |
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