Detection of low‐grade mosaicism in fetal cells isolated from maternal blood

Farideh Z. Bischoff, Dorothy E. Lewis, Joe Leigh Simpson, Dianne D. Nguyen, Jeffrey Scott, Wendy Schober, Sarah Murrell, Sherman Elias

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non‐invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first‐trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.

Original languageEnglish (US)
Pages (from-to)1182-1184
Number of pages3
JournalPrenatal Diagnosis
Issue number12
StatePublished - Jan 1 1995


  • FISH
  • chorionic villus
  • fetal cells in maternal blood
  • mosaicism

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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