A NEAR FALSE-NEGATIVE FINDING OF MOSAIC TRISOMY-21 - A CAUTIONARY TALE

Authors
BEVERSTOCK GC HANSSON K HELDERMANVANDENENDEN TJM BROCKERVRIENDS A KLUMPER F BARTELINGS M DOBBEVANMEERENDONK W ROOSMALEN JV KOLKMAN PH KANHAI HHH
Citation
Gc. Beverstock et al., A NEAR FALSE-NEGATIVE FINDING OF MOSAIC TRISOMY-21 - A CAUTIONARY TALE, Prenatal diagnosis, 18(7), 1998, pp. 742-746
Citations number
11
Categorie Soggetti
Genetics & Heredity","Obsetric & Gynecology
Journal title
Prenatal diagnosis → ACNP
ISSN journal
01973851
Volume
18
Issue
7
Year of publication
1998
Pages
742 - 746
Database
ISI
SICI code
0197-3851(1998)18:7<742:ANFFOM>2.0.ZU;2-3
Abstract
We report the finding of a mosaic trisomy 21 restricted to the long-te rm 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 def initive diagnosis of mosaic Down syndrome was eventually confirmed by cordocentesis and by post-abortion fibroblast cultures. (C) 1998 John Wiley & Sons, Ltd.