Rapid Prenatal Aneuploidy Screening by Fluorescence In Situ Hybridization (FISH)

  • Anja WeiseEmail author
  • Thomas Liehr
Part of the Methods in Molecular Biology book series (MIMB, volume 1885)


The most common aneuploidies observed in prenatal diagnostics in the second trimester are trisomies of the chromosomes 13, 18 or 21 and gonosomal abnormalities. Rapid detection of these aneuploidies after amniocentesis is possible by fluorescence in situ hybridization (FISH) utilizing centromeric or locus-specific probes. FISH aneuploidy screening results in uncultured amniocytes are available within 24 h or less. Operators should be aware that there are possible pitfalls in connection with the commercially available probe sets and in result interpretation in general and thus proceed with appropriate caution. Here, we explain how rapid prenatal aneuploidy screening is performed using the Food and Drug Administration (FDA-) approved Aneu Vysion kit (ABBOTT/Vysis) and a review is given of drawbacks and opportunities of the method.

Key words

Prenatal diagnosis Molecular cytogenetics Fluorescence in situ hybridization (FISH) Interphase FISH Pitfalls 


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Jena University Hospital, Institute of Human Genetics, Friedrich Schiller UniversityJenaGermany

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