Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6189273 | Seminars in Fetal and Neonatal Medicine | 2011 | 5 Pages |
Abstract
SummaryArray technology, here termed molecular karyotyping, is an attractive alternative to conventional karyotyping for prenatal diagnosis given the increase in resolution as well as faster report times. We review the benefits and limitations of this technique for the detection of pathogenic genomic imbalances, address the challenges raised in the interpretation of copy number variations, discuss practical considerations for the routine implementation of molecular karyotyping in prenatal diagnosis, and identify areas where more research is desired to enable large scale introduction of the technique(s).
Keywords
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Authors
Orsetta Zuffardi, Annalisa Vetro, Paul Brady, Joris Vermeesch,