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Related Experiment Videos

Chorionic villus sampling in continuing pregnancies. II. Cytogenetic reliability.

A O Martin, J L Simpson, B J Rosinsky

    American Journal of Obstetrics and Gynecology
    |June 1, 1986
    PubMed
    Summary

    Cytogenetic analysis of chorionic villus samples revealed discrepancies. Some detected abnormalities, like 45,X/46,XX mosaicism, may not indicate fetal issues, necessitating confirmatory amniocentesis.

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    Area of Science:

    • Genetics
    • Prenatal Diagnostics

    Background:

    • Chorionic villus sampling (CVS) is a common prenatal diagnostic tool.
    • Cytogenetic analysis of CVS can detect chromosomal abnormalities.

    Purpose of the Study:

    • To evaluate the reliability of CVS cytogenetic analysis in detecting fetal abnormalities.
    • To identify discrepancies between direct villi analysis and cultured cells.

    Main Methods:

    • Performed cytogenetic analysis on 103 chorionic villus samples.
    • Compared CVS findings with fetal or neonatal tissue results.
    • Investigated discrepancies arising from direct villi analysis versus long-term cultures.

    Main Results:

    • Six chromosomal abnormalities were detected in 103 CVS samples.

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  • Three abnormalities (47,XY,+13; 46,XY,t(13q13q); 45,X) were confirmed in fetal/neonatal tissue.
  • Three abnormalities were not confirmed: two in long-term cultures, one in direct villi analysis.

    • Conclusions:

    • Certain CVS abnormalities, such as 45,X/46,XX or 45,X/46,XY mosaicism, may not reflect true fetal status.
    • Discrepancies can occur between direct villi processing and cultured cells.
    • Confirmatory amniocentesis and adherence to guidelines are recommended to manage discrepancies.