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Related Experiment Videos

'Late' chorionic villus sampling: cytogenetic aspects

L Dalprà1, G Nocera, M G Tibiletti

  • 1II Department of Obstetrics and Gynaecology, University of Milan, Italy.

Prenatal Diagnosis
|April 1, 1993
PubMed
Summary

Late chorionic villus sampling (CVS) provided rapid fetal karyotypes for various clinical situations. Chromosomal aberrations were detected in 11 of 131 diagnostic biopsies, aiding in prenatal diagnosis.

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Area of Science:

  • Prenatal Diagnosis
  • Cytogenetics
  • Fetal Medicine

Background:

  • Chorionic villus sampling (CVS) is a key prenatal diagnostic tool.
  • Late-term CVS offers solutions for specific clinical challenges.
  • Accurate fetal karyotyping is crucial for managing pregnancies.

Purpose of the Study:

  • To evaluate the utility of late chorionic villus sampling (CVS).
  • To assess CVS efficacy in resolving failed amniocentesis, confirming mosaic karyotypes, and investigating fetal malformations.
  • To determine the rate of chromosomal aberrations detected via CVS in diverse clinical scenarios.

Main Methods:

  • Cytogenetic analysis of 145 chorionic villus samples (CVS).
  • Late CVS was employed for specific indications including failed amniotic fluid cultures, mosaic karyotype confirmation, and ultrasound-detected fetal anomalies.

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  • Standard indications for rapid fetal karyotype determination were also addressed.

    • Main Results:

    • A chromosomal aberration was identified in 11 out of 131 diagnostic CVS biopsies.
    • In cases requiring karyotype confirmation (14 samples), the initial diagnosis was validated in 4 instances.
    • In 10 cases where fetal karyotype was checked, no anomaly was detected.

    Conclusions:

    • Late chorionic villus sampling (CVS) is effective for rapid fetal karyotyping in complex prenatal situations.
    • CVS contributes to accurate prenatal diagnosis by confirming or refuting suspected chromosomal abnormalities.
    • The study highlights the value of CVS in managing pregnancies with uncertain or abnormal cytogenetic findings.