Automatic scanning of interphase FISH for prenatal diagnosis in uncultured amniocytes

Dorit Lev, Michal Daniely, Alex Zudik, Ester Preisler, Noa Hoffmann, Tal Kaplan, Udi Raz, Miri Yanoov-Sharav, Hanna Vinkler, Gustavo Malinger

Research output: Contribution to journalArticlepeer-review

Abstract

Fluorescence in situ hybridization (FISH) of uncultured amniocytes using chromosome-specific DNA probes offers the opportunity for rapid aneuploidy screening. Between 80 and 95% of all chromosomal disorders expected in the second trimester of pregnancy can be discovered within 24 hr if DNA probes specific for chromosomes 21, 18, 13, X, and Y are used. Rapid results are crucial for clinical decision-making and are helpful in decreasing the anxiety level in most patients. One of the major factors that have been preventing the rapid FISH test from being broadly incorporated into the clinical setting is the limited staff in the cytogenetics laboratories. The present study demonstrates the use of an automated scanning system (Duet™, BioView Ltd. Rehovot, Israel) for analyzing FISH in uncultured amniocytes. Fifty-six amniotic fluid samples were evaluated in parallel by karyotyping, manual FISH analysis, and automatic FISH scanning. Automatic scanning provided accurate results compared to both manual FISH scoring and karyotype analysis. The correlation between automatic and manual FISH scanning was found to be very high (r = 0.9, p < 0.0001). The availability of automation for aneuploidy screening in amniotic fluid samples will enable offering this test to a broader patient population while providing fast and reliable results.

Original languageEnglish
Pages (from-to)41-47
Number of pages7
JournalGenetic Testing
Volume9
Issue number1
DOIs
StatePublished - Mar 2005
Externally publishedYes

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