A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection of copy number variants (CNVs) of unc...

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Bibliographic Details
Main Authors: Joo Wook Ahn, Susan Bint, Melita D. Irving, Phillipa M. Kyle, Ranjit Akolekar, Shehla N. Mohammed, Caroline Mackie Ogilvie
Format: Article
Language:English
Published: PeerJ Inc. 2014-04-01
Series:PeerJ
Subjects:
Array CGH
CMA
Software targeting
Prenatal
VUS
Prenatal testing
Online Access:https://peerj.com/articles/354.pdf

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