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

R J Hastings; D L Nisbet; K Waters; T Spencer; L S Chitty

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

Prenat Diagn. 1999 May;19(5):436-45.

Authors

R J Hastings¹, D L Nisbet, K Waters, T Spencer, L S Chitty

Affiliation

¹ Clinical Cytogenetics, Galton Laboratory, University College London, UK.

PMID: 10360512

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.

Publication types

Case Reports
Review

MeSH terms

Adult
Amniocentesis
Chromosome Aberrations / diagnosis*
Chromosome Disorders
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Pregnancy
Prenatal Diagnosis*
Retrospective Studies