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Detecting genomic imbalances in prenatal diagnosis: main hurdles and recent advances

21 Apr 2009

Abstract excerpt

BACKGROUND: Chromosome analysis from cells obtained by either amniocentesis or chorionic villi sampling has allowed for the detection of large clinically consequential genetic imbalances throughout the genome for several decades. The newer technologies of fluorescence in situ hybridization, quantitative fluorescence polymerase chain reaction (QF-PCR) and multiplex ligation-dependent probe amplification have...

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 23488459
DOI: 10.1517/17530050902767002

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