New publication
How it is diagnosed
1 supporting source
confidence 97%
novelty 75%
Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
2296-2360 14 2026 Frontiers in pediatrics Front Pediatr Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
How this was derived
Indexed from **pubmed** on 2026-11-12 (relevance 1.00, tier peer_reviewed).
Generated 2026-11-14, last changed
today. Dedup key newdoc:16.
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Evidence (1 quote)
Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
peer_reviewed
· published 2026-01-01
· live page
Additionally, CMA identified 6 cases of likely pathogenic/pathogenic CNVs (pCNVs/lpCNVs) that were missed by karyotype analysis, including 17q12 microdeletion/microduplication, 16p11.2 microduplication, 22q11.21q11.22 microdeletion, 2q13 microdeletion, and 16p13.11 microduplication, yielding an incremental diagnostic rate of 7.89% (6/76) for CMA over karyotype analysis ( P = 0.031).
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Genetic evaluation and pregnancy outcome of fetuses with digestive ... | pubmed | 2026-01-01 | yesterday | 1.00 |