Rapid aneuploidy screening (FISH or QF-PCR): the changing scene in prenatal diagnosis?

Expert Rev Mol Diagn. 2004 May;4(3):333-7. doi: 10.1586/14737159.4.3.333.


The accuracy of new molecular diagnostics, fluoresence in situ hybridization or quantitative fluorescence-PCR (collectively known as rapid aneuploidy screening), in prenatal diagnosis has already been demonstrated in a number of large studies. The challenge now is how to apply them clinically in the most cost-effective manner. It is now time to appraise whether rapid aneuploidy screening can replace traditional karyotyping when amniocenteses are performed for increased risk of Down's syndrome by maternal serum screening or advanced maternal age in the absence of ultrasound abnormality. The ten most recent studies from the literature within this research theme are reviewed and the pros and cons of this new approach in prenatal diagnosis are discussed, including the suggestion of future studies.

Publication types

  • Review

MeSH terms

  • Amniocentesis
  • Aneuploidy*
  • Animals
  • False Negative Reactions
  • False Positive Reactions
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence / economics
  • In Situ Hybridization, Fluorescence / statistics & numerical data*
  • Karyotyping
  • Molecular Diagnostic Techniques
  • Polymerase Chain Reaction / economics
  • Polymerase Chain Reaction / statistics & numerical data*
  • Pregnancy
  • Prenatal Diagnosis* / methods