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Related Experiment Videos

Genetic diagnosis in multiple pregnancies

R J Wapner1

  • 1Department of Obstetrics and Gynecology, Jefferson Medical College of Thomas Jefferson University, Philadelphia, PA 19107, USA.

Seminars in Perinatology
|October 1, 1995
PubMed
Summary

Genetic counseling and prenatal diagnosis for twin gestations have unique challenges. Procedures like amniocentesis and chorionic villi sampling are safe, with risks often related to the twins themselves, not the procedures.

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Area of Science:

  • Medical Genetics
  • Maternal-Fetal Medicine
  • Obstetrics

Background:

  • Twin gestations present distinct challenges for genetic counseling and prenatal diagnosis compared to singleton pregnancies.
  • Understanding these unique aspects is crucial for providing accurate information and appropriate care.

Purpose of the Study:

  • To detail genetic counseling considerations specific to twin pregnancies.
  • To review and compare available prenatal diagnostic techniques for twins.
  • To discuss the safety, efficacy, and timing of these procedures.

Main Methods:

  • Comparative analysis of amniocentesis and chorionic villi sampling in twin gestations.
  • Review of serum screening protocols for multiple pregnancies.
  • Discussion of risks, benefits, and technical aspects of diagnostic procedures.

Main Results:

  • While amniocentesis in twins carries a higher miscarriage risk, much is attributed to twin-related hazards rather than the procedure itself.
  • Chorionic villi sampling (CVS) is equally safe and effective in experienced centers, offering earlier diagnosis, which is advantageous for discordant findings.
  • Serum screening in twins shows lower sensitivity and specificity than in singletons.

Conclusions:

  • Prenatal diagnosis via CVS and amniocentesis can be performed safely in twin and higher-order multiple gestations.
  • Serum screening is valuable but less precise in multiple pregnancies.
  • Tailored genetic counseling and diagnostic approaches are essential for twin gestations.

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