A near false-negative finding of mosaic trisomy 21-a cautionary tale

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...

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Bibliographic Details
Published in:Prenatal diagnosis 1998-07, Vol.18 (7), p.742-746
Main Authors: Beverstock, G. C., Hansson, Kerstin, Helderman-Van Den Enden, Apollonia T. J. M., Bröcker-Vriends, Annette, Klumper, F., Bartelings, Margot, Dobbe-Van Meerendonk, Willemijn, Roosmalen, J. V., Kolkman, P. H., Kanhai, H. H. H.
Format: Article
Language:English
Subjects:
Adult
Amniocentesis
Amniotic Fluid - cytology
Biological and medical sciences
Cells, Cultured
Chorionic Villi Sampling
Cordocentesis
CVS
Down Syndrome - diagnosis
False Negative Reactions
Female
Gynecology. Andrology. Obstetrics
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Management. Prenatal diagnosis
Medical sciences
Mosaicism
Pregnancy
Pregnancy. Fetus. Placenta
trisomy 21 mosaicism
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Summary: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. © 1998 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/(SICI)1097-0223(199807)18:7<742::AID-PD337>3.0.CO;2-R