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Prenatal diagnosis by chorionic villus sampling

B Brambati1, L Tului, E Alberti

  • 1First Institute of Obstetrics and Gynaecology, University of Milan, Italy.

European Journal of Obstetrics, Gynecology, and Reproductive Biology
|March 1, 1996
PubMed
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First trimester chorionic villus sampling (CVS) offers early genetic disease diagnosis, surpassing amniocentesis. Extensive data shows CVS is safe and not linked to limb reduction defects, establishing it as the gold standard for prenatal genetic testing.

Area of Science:

  • Perinatology
  • Medical Genetics
  • Fetal Medicine

Background:

  • Chorionic villus sampling (CVS) provides earlier results compared to amniocentesis.
  • Advancements in DNA analysis expand indications for prenatal diagnosis of genetic disorders.
  • CVS is increasingly utilized for genetic screening in early pregnancy.

Purpose of the Study:

  • To evaluate the advantages of first-trimester CVS over amniocentesis.
  • To assess the safety of CVS, particularly regarding limb reduction defects (LRDs).
  • To determine the role of CVS in twin pregnancies and selective fetal reduction.

Main Methods:

  • Review of WHO CVS-Registry data on over 130,000 procedures.
  • Comparison of CVS with amniocentesis in twin pregnancies.

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  • Analysis of genetic disease screening using recombinant DNA technology.

    • Main Results:

    • CVS offers significantly earlier diagnosis than amniocentesis.
    • No association found between CVS and fetal malformations, including LRDs.
    • CVS is advantageous in twin pregnancies, especially for selective reduction.

    Conclusions:

    • First-trimester CVS is the gold standard for prenatal diagnosis of genetic diseases.
    • CVS is a safe procedure with a broad spectrum of indications.
    • CVS plays a crucial role in preventing genetic diseases through early detection.