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Related Experiment Videos

Invasive prenatal diagnostic techniques.

Ronald J Wapner1

  • 1Division of Maternal Fetal Medicine, Columbia University Medical Center, New York, NY 10032, USA. rw2191@columbia.edu

Seminars in Perinatology
|March 15, 2006
PubMed
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Chorionic villus sampling (CVS) is a safe and accurate first-trimester prenatal diagnostic procedure. While rare, confined placental mosaicism (CPM) detected via CVS aids in clinical interpretation and risk assessment for poor perinatal outcomes.

Area of Science:

  • Prenatal Diagnostics
  • Genetics
  • Obstetrics

Background:

  • First-trimester aneuploid screening necessitates reliable diagnostic procedures.
  • Chorionic villus sampling (CVS) is the primary invasive diagnostic method before 14 weeks gestation.
  • Extensive experience validates the accuracy, efficacy, and safety of CVS.

Purpose of the Study:

  • To highlight the importance of CVS in early prenatal diagnostics.
  • To discuss the implications of confined placental mosaicism (CPM).
  • To compare the safety and efficacy of CVS with amniocentesis.

Main Methods:

  • Review of over two decades of Chorionic villus sampling (CVS) data.
  • Analysis of karyotype concordance between placenta and fetus.

Related Experiment Videos

  • Evaluation of prospective comparative studies with amniocentesis.

    • Main Results:

    • CVS karyotype matches fetal karyotype in over 98% of cases.
    • Confined placental mosaicism (CPM) occurs in 1-2% of CVS procedures.
    • CVS and amniocentesis show similar miscarriage rates with experienced operators.
    • CVS after 10 weeks gestation does not increase fetal anomaly risk.

    Conclusions:

    • CVS is an accurate and safe invasive prenatal diagnostic tool for early pregnancy.
    • Understanding CPM aids in clinical interpretation, identifying fetal uniparental disomy, and assessing perinatal risks.
    • CVS is a viable alternative to second-trimester amniocentesis with comparable safety profiles.