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Related Experiment Videos

Amniocentesis and chorionic villus sampling.

K D McGowan1, K J Blakemore

  • 1Johns Hopkins University School of Medicine, Baltimore, Maryland.

Current Opinion in Obstetrics & Gynecology
|April 1, 1991
PubMed
Summary

Amniocentesis and chorionic villus sampling (CVS) are key invasive prenatal diagnostics. Early amniocentesis aids biochemical disorder detection, while CVS is a safe first-trimester option, though questions remain on mosaicism.

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Area of Science:

  • Perinatal diagnostics
  • Maternal-fetal medicine
  • Genetics

Background:

  • Amniocentesis and chorionic villus sampling (CVS) are primary invasive prenatal diagnostic methods.
  • Early amniocentesis shows promise for biochemical disorder detection, but its utility for fetal defects is under investigation.
  • Comparing early amniocentesis with CVS is challenging due to differing gestational ages.

Purpose of the Study:

  • To review the current applications and challenges of amniocentesis and CVS in prenatal diagnosis.
  • To evaluate the role of early and midtrimester amniocentesis in detecting fetal anomalies and biochemical disorders.
  • To discuss the safety, efficacy, and emerging issues related to CVS, including mosaicism and transfusion risks.

Main Methods:

  • Review of recent reports and evaluations concerning amniocentesis and CVS procedures.
  • Comparison of diagnostic capabilities and timing of amniocentesis versus CVS.
  • Analysis of safety, efficacy, and specific complications associated with CVS (e.g., mosaicism, fetomaternal transfusion).

Main Results:

  • Early amniocentesis is increasingly used for biochemical disorders, but its role in detecting neural tube or ventral wall defects requires further study.
  • Midtrimester amniocentesis for elevated maternal serum alpha-fetoprotein after a normal ultrasound is under scrutiny, with risk adjustment potentially needed.
  • CVS is a safe and accepted first-trimester diagnostic tool with expanding applications; questions persist regarding placental mosaicism and pregnancy loss.

Conclusions:

  • Amniocentesis and CVS are vital prenatal diagnostic tools with evolving applications and considerations.
  • The timing and interpretation of results, particularly concerning mosaicism and ultrasound findings, require careful evaluation.
  • Further research is needed to clarify the role of early amniocentesis in detecting structural anomalies and the implications of CVS-detected mosaicism.

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