Data · study · 2026
Chromosomal Microarray Analysis (CMA) of Amniotic Fluid Samples for High-Risk 15q11q13 Copy Number Variations (CNVs)
Listed in NCBI GEO
The aim of this study was to evaluate the efficacy of non-invasive prenatal screening (NIPS) in identifying these syndromes in 90,693 pregnancies within the general population.
Description
We retrospectively analyzed 90,693 pregnant women who underwent NIPS at Longgang Maternal and Child Health Hospital in Shenzhen from November 2022 to January 2026. For high-risk 15q11q13 CNVs identified, we performed CMA on amniotic fluid.
NIPS screening identified 4 high-risk cases for 15q11q13 deletion and 7 for duplication. Among the deletion cases, 3 were confirmed by CMA to have a 5-6 Mb deletion, while 1 declined further testing. For duplication, 6 underwent amniocentesis, with CMA confirming 5 cases, 1 normal result, and 1 declined further testing.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE348nnn/GSE348526 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE348526 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1534553 ncbi.nlm.nih.gov/bioproject/PRJNA1534553 ↗
project · from NCBI GEO
Topics
- Stated by source
- Homo sapiens · SNP genotyping by SNP array
- From keywords
- Life Sciences
Provenance · 1 source records, 7 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE348526 | 11 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:snp-genotyping-by-snp-array | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |