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Prenatal diagnosis by array-CGH.

Authors
  • Rickman, L1
  • Fiegler, H
  • Carter, N P
  • Bobrow, M
  • 1 University of Cambridge Department of Medical Genetics, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2QQ, United Kingdom. [email protected] , (United Kingdom)
Type
Published Article
Journal
European Journal of Medical Genetics
Publisher
Elsevier
Publication Date
Jan 01, 2005
Volume
48
Issue
3
Pages
232–240
Identifiers
PMID: 16179219
Source
Medline
Language
English
License
Unknown

Abstract

Microscopic karyotype analysis of cultured cells has been regarded as the gold standard for prenatal diagnosis for over 30 years. Since the first application of this technique to prenatal testing in the early 1970's, this procedure has proved to be highly reliable for identifying chromosome copy number abnormalities (aneuploidy) and large structural rearrangements in foetal cells obtained invasively by either amniocentesis or chorionic villus sampling (CVS). Recognising the need for more rapid testing methods which do not require cell culture, fluorescence in situ hybridisation (FISH) and quantitative fluorescence PCR (QF-PCR) have been introduced to this field in order to answer specific diagnostic questions. However, both FISH and QF-PCR suffer the disadvantage in that they are difficult to scale to a comprehensive, genome-wide screen. Array-comparative genomic hybridisation (array-CGH) in contrast is a comprehensive, genome-wide screening strategy for detecting DNA copy number imbalances which can be rapid, less labour-intensive than karyotype banding analysis and is highly amenable to automation. Array-CGH has the potential to be used for prenatal diagnosis and may address many of the limitations of both conventional microscopic cytogenetic analyses and the more recently employed rapid-screening strategies.

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