17q12 Knowledge Basedeletion syndrome · static snapshot
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New publication How it is diagnosed 1 supporting source confidence 97% novelty 75%

17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing

17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing Dear Editor, A 26-year-old woman, G2P1A0, underwent a normal nuchal translucency scan and received normal results from noninvasive prenatal testing (NIPT) for aneuploidy screening.

How this was derived

Indexed from **openalex** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:521. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Approximately one-third of individuals diagnosed prenatally with DUO have Down syndrome, and overall, 3%-5% of those with trisomy 21 present with DUO.[1] The double bubble sign typically manifests in late pregnancy; however, current prenatal care practices suggest a significantly reduced likelihood of common aneuploidies due to the routine implementation of first-trimester screening strategies wit

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
17q12 Microduplication Syndrome: The Need for Clinical Vigilance in... openalex 2026-05-30 yesterday 1.00