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Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?

Genes - 25 Jul 2023

Mitrakos Anastasios, Kosma Konstantina, Makrythanasis Periklis, Tzetis Maria

Abstract excerpt

Chromosomal microarray analysis (CMA) is considered a first-tier test for patients with developmental disabilities and congenital anomalies and is also routinely applied in prenatal diagnosis. The current consensus size cut-off for reporting copy number variants (CNVs) in the prenatal setting ranges from 200 Kb to 400 Kb, with the intention of minimizing the impact of variants of uncertain significance (VUS)....

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PMID: 37628571
DOI: 10.3390/genes14081519
PMCID: PMC10454647

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