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THE APPLICATION OF MICROARRAY BASED COMPARATIVE GENOMIC HYBRIDIZATION IN PRENATAL DIAGNOSIS

Part of: Bespoke shallow archive Weizmann

Published online by Cambridge University Press:  01 May 2008

KWONG WAI CHOY ,
PO TING TSANG ,
TAK YEUNG LEUNG ,
CHI CHIU WANG  and
TZE KIN LAU
KWONG WAI CHOY*
Affiliation:
Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong
PO TING TSANG
Affiliation:
Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong
TAK YEUNG LEUNG
Affiliation:
Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong
CHI CHIU WANG
Affiliation:
Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong
TZE KIN LAU
Affiliation:
Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong
*
Dr. Kwong Wai Choy, Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR
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Extract

Microscopic forms of karyotyping and cytogenetic analysis by means of G-banded chromosome analysis and rapid FISH (fluorescence in situ hybridization) on amniotic fluids or chorionic villus samples are at present regarded as the gold standard for prenatal diagnosis of chromosomal anomalies. Nevertheless, up to now the resolution of conventional chromosomal analysis was limited to approximately 4–5 Mb and not smaller than 2 Mb for FISH. Thus numerous common microdeletion syndromes are not detectable by conventional karyotyping. In addition, prenatal cells yield lower band resolution by conventional karyotyping than peripheral white blood cells making detection of subtle abnormalities even more difficult. With the advances in molecular-based techniques, a collaborative effort has led to the standardized method for detection of a restricted set of common chromosomal aneuploidies and microdeletion syndromes such as Down's syndrome, DiGeorge or Angelman syndrome either by rapid FISH and/or quantitative fluorescent PCR (QF-PCR). Even if the presence of particular phenotypic features of microdeletion or duplication syndromes may direct the use of syndrome-specific FISH tests in the postnatal period, syndrome-specific FISH analysis still has a very limited potential and application in the prenatal period due to the limitation in prenatal morphological or imaging diagnosis of many of the syndromes.

Type
Research Article
Information
Fetal and Maternal Medicine Review , Volume 19 , Issue 2 , May 2008 , pp. 119 - 133
Copyright
Copyright © Cambridge University Press 2008

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