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Article

Prenatal detection of copy number variants.

Best practice & research. Clinical obstetrics & gynaecology - 1 Dec 2024

Wafik Mohamed, Pendlebury-Watt Alice, Price Kelly, Tomlinson Charlotte, Fowler Emma, Chandler Natalie, Holder-Espinasse Muriel

Abstract excerpt

Prenatal detection of copy number variants (CNVs) plays an important role in the diagnosis of fetal genetic abnormalities. Understanding the methods used for prenatal CNV detection and their clinical significance contributes to the implementation of advanced genetic screening techniques in prenatal care; facilitating early identification and management of genetic disorders in fetuses. Some CNVs impose significant...

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Identifiers

PMID: 39278051
DOI: 10.1016/j.bpobgyn.2024.102547

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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