title: Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling.
abstract: From a total of 1312 diagnostic chorionic villus samplings (CVS) there were 22 which showed discordance between the karyotype of the chorionic villi and that of the fetus. This frequency was some 20-fold higher than that reported at amniocentesis. In the majority of discordant cases, the fetal karyotype was normal while the placental karyotype was mosaic. In four cases, the placental karyotype was non-mosaic (a trisomy 16, a monosomy X, and two tetraploids) while the fetal karyotype was normal. In one case, the placenta was trisomy 18 while the fetus was mosaic. There were two 'false-negative' results where short-term methods showed only normal cells while both long-term cultures of chorionic villi and fetal cells were mosaic, in one 46,XY/47,XXY and in the other 46,XY/47,XY,+21.
authors.affiliation: Cytogenetics Unit, Adelaide Children's Hospital, South Australia.
authors.forename: D F
authors.initials: DF
authors.lastname: Callen
authors.forename: G
authors.initials: G
authors.lastname: Korban
authors.forename: G
authors.initials: G
authors.lastname: Dawson
authors.forename: L
authors.initials: L
authors.lastname: Gugasyan
authors.forename: E J
authors.initials: EJ
authors.lastname: Krumins
authors.forename: S
authors.initials: S
authors.lastname: Eichenbaum
authors.forename: J
authors.initials: J
authors.lastname: Petrass
authors.forename: S
authors.initials: S
authors.lastname: Purvis-Smith
authors.forename: A
authors.initials: A
authors.lastname: Smith
authors.forename: G
authors.initials: G
authors.lastname: Den Dulk
mesh_terms: D001707:Biopsy, Needle; D002824:Chorionic Villi / Q000648:ultrastructure*; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002875:Chromosomes / Q000032:analysis / Q000648:ultrastructure; D005260:Female; D005333:Fetus / Q000166:cytology*; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*