title: Automatic scanning of interphase FISH for prenatal diagnosis in uncultured amniocytes.
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.
authors.affiliation: Institute for Medical Genetics, Wolfson Medical Center, Holon, 58100, Israel.
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.forename: Michal
authors.initials: M
authors.lastname: Daniely
authors.forename: Alex
authors.initials: A
authors.lastname: Zudik
authors.forename: Ester
authors.initials: E
authors.lastname: Preisler
authors.forename: Noa
authors.initials: N
authors.lastname: Hoffmann
authors.forename: Tal
authors.initials: T
authors.lastname: Kaplan
authors.forename: Udi
authors.initials: U
authors.lastname: Raz
authors.forename: Miri
authors.initials: M
authors.lastname: Yanoov-Sharav
authors.forename: Hanna
authors.initials: H
authors.lastname: Vinkler
authors.forename: Gustavo
authors.initials: G
authors.lastname: Malinger
mesh_terms: D000650:Amnion / Q000166:cytology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007399:Interphase; D007621:Karyotyping; D011296:Prenatal Diagnosis / Q000379:methods*