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A near false-negative finding of mosaic trisomy 21--a cautionary tale
G C Beverstock1, K Hansson, A T Helderman-van den Enden
1Department of Clinical Cytogenetics, Medical Centre Leiden University, The Netherlands. gb@ruly46.Medfac.Leidenuniv.nl
Prenatal Diagnosis
|August 26, 1998
Abstract:
We report the finding of a mosaic trisomy 21 restricted to the long-term culture of chorionic villi and to one amniotic fluid culture which, if interpreted according to the standard rules for the authentication of mosaicism, would have resulted in a false-negative result. The definitive diagnosis of mosaic Down syndrome was eventually confirmed by cordocentesis and by post-abortion fibroblast cultures.