Prenatal detection of extra structurally abnormal chromosomes (ESACs): New cases and a review of the literature

Abstract

We present 16 cases, 10 de novo and 6 familial, in which extra structurally abnormal chromosomes (ESACs) were diagnosed prenatally and identified by fluorescence in situ hybridization (FISH) studies with follow up from birth. We review the literature on prenatally diagnosed ESACs arising de novo and suggest a management protocol for these cases.