期刊
SEMINARS IN FETAL & NEONATAL MEDICINE
卷 16, 期 2, 页码 94-98出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.siny.2010.12.001
关键词
Array comparative genomic hybridization; Copy number variation; Cytogenomic array; Molecular karyotyping; Prenatal diagnosis; Unclassified variants
类别
资金
- European Commission [MEST CT2005 019707]
- IWT [SBO-60848, 07/0715]
- FWO [GOA/2006/12]
- Center of Excellence [KUL PFV/10/016 SymBioSys]
- Fondazione IRCCS Policlinico San Matteo [N 80536]
Array 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). (C) 2010 Elsevier Ltd. All rights reserved.
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