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Related Experiment Videos

Mosaicism in chorionic villus sampling

J S Fryburg1

  • 1Division of Genetics, University of Virginia Health Science Center, Charlottesville.

Obstetrics and Gynecology Clinics of North America
|September 1, 1993
PubMed
Summary

Chorionic villus sampling (CVS) can detect placental mosaicism, often confined to extraembryonic tissues. Further research is needed to fully understand and manage risks associated with this finding during pregnancy.

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Area of Science:

  • Prenatal diagnostics
  • Cytogenetics
  • Reproductive medicine

Background:

  • Chromosomal mosaicism is frequently observed in chorionic villus sampling (CVS), typically confined to extraembryonic tissues.
  • Understanding placental mosaicism is crucial for accurate genetic counseling and risk assessment in prenatal diagnosis.

Purpose of the Study:

  • To inform patients about the implications of placental mosaicism detected via CVS.
  • To highlight the need for comprehensive counseling regarding potential follow-up studies and associated risks.
  • To discuss the predictive value of CVS compared to amniocentesis for cytogenetic diagnosis.

Main Methods:

  • Review of existing literature and clinical experience with chorionic villus sampling (CVS).
  • Analysis of the significance and frequency of placental mosaicism.
  • Comparison of CVS with amniocentesis for cytogenetic diagnostic accuracy and timing.

Main Results:

  • Most CVS mosaicism is confined to the placenta, not affecting fetal chromosomes.
  • CVS offers earlier results than amniocentesis, with equivalent predictive value for fetal chromosomal abnormalities.
  • Current data are insufficient to accurately assess risks of pregnancy complications from placental mosaicism.

Conclusions:

  • Counseling for CVS must address placental mosaicism, potential follow-up studies, and associated emotional/psychological sequelae.
  • Placental mosaicism may indicate increased risk for miscarriage and intrauterine growth restriction (IUGR), requiring third-trimester monitoring.
  • Further research and long-term follow-up are essential to better understand and manage placental mosaicism.

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