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Related Experiment Videos

Chorionic villi sampling: laboratory experience with 4,000 consecutive cases

B T Wang1, W Peng, K T Cheng

  • 1Prenatal Diagnostic Center of Southern California, Inc., Beverly Hills 90211.

American Journal of Medical Genetics
|December 1, 1994
PubMed
Summary
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Combining direct and culture methods for chorionic villus sampling (CVS) reduces diagnostic errors and maternal cell contamination (MCC). Dissection techniques further minimize MCC, aiding in confined placental mosaicism (CPM) interpretation.

Area of Science:

  • Prenatal Diagnosis
  • Cytogenetics
  • Reproductive Medicine

Background:

  • Chorionic villus sampling (CVS) is a key prenatal diagnostic tool.
  • Accurate cytogenetic analysis is crucial for detecting fetal chromosomal abnormalities.
  • Maternal cell contamination (MCC) and confined placental mosaicism (CPM) can complicate CVS interpretation.

Purpose of the Study:

  • To evaluate methods for reducing diagnostic errors in CVS.
  • To analyze the incidence and implications of confined placental mosaicism (CPM).
  • To provide a resource for interpreting mosaic cytogenetic findings in CVS.

Main Methods:

  • Analysis of 4,000 consecutive chorionic villus sampling (CVS) cases.
  • Combination of direct and culture methods for cytogenetic analysis.

Related Experiment Videos

  • Dissection of CVS specimens to minimize maternal cell contamination (MCC).

    • Main Results:

    • Combined direct and culture methods significantly reduce false diagnoses and MCC.
    • Specimen processing time impacts direct preparation quality.
    • Dissection effectively minimizes MCC.
    • In 92% of mosaic cases, the abnormal cell line was confined to the placenta (CPM).
    • True chromosomal mosaicism frequency in CVS (0.2%) is comparable to amniocentesis.

    Conclusions:

    • Integrated CVS methods enhance diagnostic accuracy and reduce MCC.
    • Dissection is vital for minimizing MCC in CVS.
    • CPM is a significant finding in mosaic cases, often limited to the placenta.
    • CVS remains a reliable method for detecting chromosomal mosaicism.