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Choroid plexus cysts and aneuploidy

D Peleg1, J Yankowitz

  • 1Department of Obstetrics and Gynecology, College of Medicine, University of Iowa Hospitals and Clinics, Iowa City 52242-1080, USA.

Journal of Medical Genetics
|July 25, 1998
PubMed
Summary
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Second trimester choroid plexus cysts may indicate fetal aneuploidy risk, especially when other malformations are present. Management of isolated cysts remains debated, requiring careful consideration of chromosomal risk factors.

Area of Science:

  • Prenatal diagnosis
  • Fetal medicine
  • Genetics

Background:

  • Choroid plexus cysts (CPCs) association with fetal aneuploidy noted since 1986.
  • Numerous studies exist, but no consensus on chromosomal risk.
  • Second-trimester CPCs require careful evaluation.

Purpose of the Study:

  • To review and summarize published reports on second-trimester CPCs.
  • To evaluate the strengths and weaknesses of existing literature.
  • To clarify the association between CPCs and aneuploidy.

Main Methods:

  • Systematic review of published reports on second-trimester CPCs.
  • Analysis of studies focusing on chromosomal risk and associated malformations.
  • Emphasis on methodological strengths and limitations of included studies.

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Main Results:

  • Additional fetal malformations are a significant risk factor for aneuploidy.
  • Presence of other anomalies indicates a need for fetal karyotype determination.
  • The risk of aneuploidy in isolated CPCs is not definitively established.

Conclusions:

  • Additional malformations alongside CPCs are strong indicators for karyotyping.
  • Management of isolated CPCs is controversial and requires further investigation.
  • A consensus on the precise chromosomal risk associated with CPCs is still lacking.