Premium
Follow‐up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results
Author(s) -
Van Opstal Diane,
van den Berg Cardi,
Galjaard RobertJan H.,
Los Frans J.
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200102)21:2<75::aid-pd990>3.0.co;2-b
Subject(s) - biology , amniotic fluid , fluorescence in situ hybridization , chorionic villi , karyotype , fish <actinopterygii> , chromosome , aneuploidy , chorionic villus sampling , fetus , prenatal diagnosis , genetics , microbiology and biotechnology , andrology , pathology , pregnancy , gene , medicine , fishery
Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid (AF) cells is a widespread technique for the rapid prenatal detection of specific chromosome aberrations. During a 6‐year period (1993–1998) we used FISH for quick follow‐up investigations in uncultured AF cells after finding an uncertain chromosome aberration in a first chorionic villus (CV) or AF sample in 79 cases. These FISH results were compared with conventional cytogenetic results of the AF cell cultures in all cases. We found discrepant FISH and cytogenetic results in four instances. In general, FISH on uncultured AF cells proved to be a reliable technique for the rapid differentiation between confined placental mosaicism and true fetal mosaicism, and between pseudomosaicism and true mosaicism, respectively. Uncultured cells may sometimes even better reflect chromosomal mosaicism than cultured cells, since they are not subject to culture induced selection mechanisms. However, we found evidence that exceptional cases of tissue confined mosaicism may go undetected in uncultured cells. Copyright © 2001 John Wiley & Sons, Ltd.