Prenatal detection of unbalanced chromosomal rearrangements by array CGH

Abstract excerpt

BACKGROUND: Karyotype analysis has been the standard method for prenatal cytogenetic diagnosis since the 1970s. Although highly reliable, the major limitation remains the requirement for cell culture, resulting in a delay of as much as 14 days to obtaining test results. Fluorescent in situ hybridisation (FISH) and quantitative fluorescent PCR (QF-PCR) rapidly detect common chromosomal abnormalities but do not...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Syndromes and Imprinting
• Share to Genomic variations and chromosomal abnormalities
• Share to Prenatal Screening and Diagnostics