Discordant direct and culture results following chorionic villus sampling and the diagnosis of a third cell line in the fetus

Owen P. Phillips, Gopalrao V.N. Velagaleti, Avirachan T. Tharapel, Lee P. Shulman

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)170-172
Number of pages3
JournalPrenatal Diagnosis
Volume17
Issue number2
DOIs
StatePublished - Feb 1 1997
Externally publishedYes

Keywords

  • Chorionic villus sampling
  • Mosaic trisomy 20
  • Robertsonian translocations

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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