4.2 Article

Array technology in prenatal diagnosis

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

资金

  1. European Commission [MEST CT2005 019707]
  2. IWT [SBO-60848, 07/0715]
  3. FWO [GOA/2006/12]
  4. Center of Excellence [KUL PFV/10/016 SymBioSys]
  5. Fondazione IRCCS Policlinico San Matteo [N 80536]

向作者/读者索取更多资源

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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