We report a case of discordant non-mosaic karyotypes following chorionic villus sampling (CVS). A 45,XX,der(21;21)(q10;q10) karyotype was found on direct preparation of cytotrophoblasts and 46,XX was found on long-term culture of mesenchymal core cells. Analysis of amniotic fluid cells and fetal tissue revealed a third karyotype: 46,XX,+21,der(21;21)(q10;q10). Had only culture analysis been performed, follow-up studies might not have been undertaken. This case demonstrates the importance of direct CVS preparation in helping to identify fetal abnormalities, and the need for follow-up of discordant CVS results.
|Idioma original||English (US)|
|Número de páginas||3|
|Estado||Published - feb. 1 1997|
|Publicado de forma externa||Sí|
ASJC Scopus subject areas
- Obstetrics and Gynecology