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Related Experiment Videos

Genetic diagnosis before the eighth gestational week.

B Brambati1, L Tului, G Simoni

  • 1Clinica L. Mangiagalli, University of Milan, Italy.

Obstetrics and Gynecology
|February 1, 1991
PubMed
Summary
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Early transabdominal chorionic villus sampling (CVS) is a safe and effective method for genetic diagnosis in high-risk pregnancies. This technique allows for rapid genetic results, enabling timely decisions regarding pregnancy management.

Area of Science:

  • Perinatology
  • Medical Genetics
  • Diagnostic Imaging

Background:

  • High-risk pregnancies require timely genetic diagnosis.
  • Early genetic testing facilitates informed reproductive choices.

Purpose of the Study:

  • To evaluate the safety and efficacy of early transabdominal chorionic villus sampling (CVS).
  • To assess the feasibility of rapid genetic diagnosis using this technique.

Main Methods:

  • Ultrasound-guided, freehand transabdominal CVS offered to 210 high-genetic-risk women at 6-7 weeks' gestation.
  • Successful sampling achieved in 201 cases.
  • Tissue adequacy and early complications were monitored.

Main Results:

  • Sampling success rates of 86% (first attempt) and 100% (second attempt).

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  • Adequate tissue specimens (≥20 mg) obtained in 86% of cases.
  • Early complications occurred in 7.9% without adverse maternal or fetal outcomes; fetal loss rate was 3.5%.

    • Conclusions:

    • Early transabdominal CVS is a potentially advantageous technique for high-genetic-risk pregnancies.
    • Rapid genetic diagnosis (1-3 days) enables early intervention options.
    • Further research is needed to fully establish safety and efficacy.