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| Status |
Public on Nov 25, 2025 |
| Title |
Affymetrix SNP-array data for fetal tissue from recurrent pregnancy loss patients |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
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| Summary |
Background. Recurrent pregnancy loss (RPL) is often associated with genetic factors. This study investigates chromosomal abnormalities in RPL by analyzing copy number variations (CNVs) and single nucleotide variants (SNVs). Methods. We conducted a retrospective analysis of 400 RPL patients, with 393 successfully analyzed using CNV-seq and SNP-array after excluding maternal cell contamination (MCC). Additionally, 16 families with normal results underwent whole exome sequencing (WES). Results. Among the patients, 187 (47.6%) showed normal results, while 206 (52.4%) exhibited abnormalities, including 152 aneuploidies (73.8%), 37 CNVs (18.0%), and 17 triploidies (8.3%). Statistical analysis revealed a significant increase in chromosomal abnormalities with advancing maternal age, but no significant differences in rates were observed before 24 weeks of pregnancy in patients with two or more miscarriages. We identified 28 pathogenic (P) / likely pathogenic (LP) CNVs and 6 P / LP SNVs, implicating 808 morbid genes. Enrichment analysis and protein-protein interaction (PPI) network construction revealed 69 key genes in critical pathways, with IL6, TNF, and ACTB as hub genes. Discussion. These findings contribute to establishing genetic markers for RPL screening in the Chinese population, enhancing our understanding of miscarriage etiology and facilitating prenatal diagnosis.
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| Overall design |
This study analyzed 66 samples (from Recurrent Pregnancy Loss patients with miscarriage at >12 weeks, no maternal cell contamination) using the CytoScan 750K Suite SNP-array platform. No biological/technical replicates, control samples, or reference samples were included; the 66 samples were solely tested via SNP-array to detect chromosomal abnormalities (e.g., CNVs, ROHs) associated with RPL.
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| Contributor(s) |
Wang L |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
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| Submission date |
Nov 21, 2025 |
| Last update date |
Nov 25, 2025 |
| Contact name |
Luming Wang |
| E-mail(s) |
wangluming1988@126.com
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| Organization name |
Jiaxing Maternity and Child Health Care Hospital
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| Street address |
NO.2468 Zhonghuan East Road
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| City |
Jiaxing |
| State/province |
Zhejiang |
| ZIP/Postal code |
314051 |
| Country |
China |
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| Platforms (1) |
| GPL18637 |
[CytoScan750K_Array] Affymetrix CytoScan 750K Array |
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| Samples (66)
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| Relations |
| BioProject |
PRJNA1367377 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE310872_Processed_data.txt.gz |
755.0 Mb |
(ftp)(http) |
TXT |
| GSE310872_RAW.tar |
3.0 Gb |
(http)(custom) |
TAR (of CEL, CYCHP) |
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