International, collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used

Abstract excerpt

The development of chromosome-specific probes (CSP) and fluorescent in-situ hybridization (FISH) has allowed for very rapid identification of selected numerical abnormalities. We attempt here to determine, in principle, what percentage of abnormalities would be detectable if only CSP-FISH were performed without karyotype for prenatal diagnosis. A total of 146 128 consecutive karyotypes for prenatal diagnosis from...

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