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Related Experiment Videos

Chromosomal mosaicism in chorionic villus sampling.

R R Schreck1, Z Falik-Borenstein, G Hirata

  • 1UCLA School of Medicine.

Clinics in Perinatology
|December 1, 1990
PubMed
Summary
This summary is machine-generated.

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Karyotyping.

Current protocols in human genetics·2008

Mosaicism in chorionic villus sampling (CVS) is common but usually confined to the placenta, not the fetus. Further testing is recommended for accurate fetal karyotype assessment.

Area of Science:

  • Genetics
  • Prenatal Diagnosis
  • Cell Biology

Background:

  • Mosaicism, the presence of multiple distinct cell lines, is frequently observed in chorionic villus samples (CVS).
  • This finding occurs at a rate ten times higher than in newborn surveys, suggesting it's often not true fetal mosaicism.
  • Confined placental mosaicism (CPM) is the primary cause, arising from errors in extraembryonic tissue development.

Purpose of the Study:

  • To investigate the origins and implications of mosaicism detected in chorionic villus sampling.
  • To clarify the discrepancy between mosaicism in placental tissue and fetal karyotypes.
  • To inform genetic counseling and decision-making processes for prenatal diagnosis.

Main Methods:

  • Analysis of chromosomal abnormalities in chorionic villus samples.

Related Experiment Videos

  • Comparison of CVS findings with fetal karyotypes obtained through amniocentesis or fetal blood sampling.
  • Evaluation of discrepant results, including confined placental mosaicism, maternal cell contamination, and pseudomosaicism.

    • Main Results:

    • Only 23% of mosaicism detected in CVS is confirmed in the fetus, indicating most is confined to the placenta.
    • Confined placental mosaicism explains the higher incidence of mosaicism in CVS compared to fetal tissues.
    • Maternal cell contamination and pseudomosaicism are other potential causes of discrepant results.

    Conclusions:

    • Mosaicism in CVS is frequently due to confined placental mosaicism and does not accurately predict fetal genotype.
    • Further prenatal testing is crucial when mosaicism is detected in CVS to determine fetal karyotype.
    • Understanding mosaicism origins in CVS is essential for accurate prenatal diagnosis and genetic counseling, though it doesn't appear linked to adverse fetal outcomes.