Appraisal of fluorescence in situ hybridization (FISH) techniques in prenatal diagnosis

Maria Dolores Coll Sandiumenge, Jose Egozcue Cuixart, Enric Querol Murillo

Research output: Contribution to journalArticleResearchpeer-review

4 Citations (Scopus)


The reliability of FISH was appraised using probes for the X and Y chromosome and for chromosomes 12 and 18 in prenatal and adult interphase nuclei. Detection of a single hybridization spot proved to be quite reliable (80-92% positive nuclei). Detection of two hybridization spots was more difficult; percentages of nuclei showing two signals varied between 62-72%. The percentages of nuclei with the correct number of spots was higher in the metaphases occasionally found. Thus, FISH may complement but not replace cytogenetic analysis. For sex determination and for the detection of mosaicism, we suggest the use of two different probes in separate regions of the same preparation. © 1993.
Original languageEnglish
Pages (from-to)101-108
JournalEarly Human Development
Issue number2
Publication statusPublished - 1 Jan 1993


  • amniocytes
  • chorionic villi
  • in situ hybridization
  • probes


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