The vanishing twin: An explanation for discordance between chorionic villus karyotype and fetal phenotype

K. S. Reddy, M. B. Petersen, S. E. Antonarakis, K. J. Blakemore

Research output: Contribution to journalArticlepeer-review

Abstract

One ‘erroneous’ diagnosis occurred in 200 first‐trimester chorionic villus samples (CVS) analysed. In direct preparations following 24 h incubation as well as in long‐term cultures, a 46.XX karyotype was observed in the villi (28 and 25 cells, respectively). At 20 weeks of gestation, labour was induced because of fetal death in utero. An autopsy performed on the fetus revealed a male phenotype. Placenta and fetal tissues were not submitted for cytogenetic studies. The discordant CVS karyotype (46,XX), in view of the male fetal phenotype, prompted further cytogenetic and molecular studies. Chromosome marker studies on the parents' blood and chorionic villi confirmed both maternal and paternal inheritance of chromosomes in the CVS. DNA studies on formalin‐fixed skin using a Y‐specific probe, DYZ1, confirmed the presence of a Y chromosome in the fetus. The most likely cause of the discrepant CVS karyotype is the presence of an undetected degenerating dizygotic twin.

Original languageEnglish (US)
Pages (from-to)679-684
Number of pages6
JournalPrenatal Diagnosis
Volume11
Issue number9
DOIs
StatePublished - Sep 1991

Keywords

  • CVS 46,XX
  • Dizygotic twin
  • Male fetus DYZ1+ve

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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