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

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

Research output: Contribution to journalArticle

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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 1997

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Chorionic Villi Sampling
Karyotype
Fetus
Cell Line
Trophoblasts
Amniotic Fluid

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

Discordant direct and culture results following chorionic villus sampling and the diagnosis of a third cell line in the fetus. / Phillips, Owen; Velagaleti, Gopalrao V N; Tharapel, Avirachan T.; Shulman, Lee P.

In: Prenatal Diagnosis, Vol. 17, No. 2, 02.1997, p. 170-172.

Research output: Contribution to journalArticle

Phillips, Owen ; Velagaleti, Gopalrao V N ; Tharapel, Avirachan T. ; Shulman, Lee P. / Discordant direct and culture results following chorionic villus sampling and the diagnosis of a third cell line in the fetus. In: Prenatal Diagnosis. 1997 ; Vol. 17, No. 2. pp. 170-172.
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