Choroid plexus cysts and aneuploidy

David Peleg, Jerome Yankowitz

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

The association of choroid plexus cysts with fetal aneuploidy, particularly trisomy 18, was first noted in 1986. Through the years there have been numerous reports on this subject, but no consensus has been reached with regard to chromosomal risk. In this review, we attempt to summarise published reports on second trimester choroid plexus cysts, with an emphasis on the strengths and weaknesses of each report. Based on these reports, additional malformations are a significant risk factor for aneuploidy and an indication for determination of fetal karyotype. The management of isolated choroid plexus cysts remains controversial.

Original languageEnglish
Pages (from-to)554-557
Number of pages4
JournalJournal of Medical Genetics
Volume35
Issue number7
DOIs
StatePublished - Jul 1998
Externally publishedYes

Keywords

  • Aneuploidy
  • Choroid plexus cyst
  • Trisomy 18
  • Trisomy 21

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