Fully automated FISH examination of amniotic fluid cells.
OBJECTIVE
Fluorescence in situ hybridization (FISH) analysis has become a valuable adjunct in cytogenetics, providing a rapid screen for common chromosome abnormalities that is particularly helpful in prenatal diagnosis. FISH analysis using standard microscopy is expensive and labor intensive, requiring both a high skill level and subjective signal interpretation. A reliable fully automated system for FISH analysis could improve laboratory efficiency and potentially reduce errors and costs.


METHODS
The efficacy of an automated system was compared to standard manual FISH analysis. Two sets of slides were generated from each of 152 amniotic fluid samples. Following hybridization with a standard panel of five chromosome FISH probes, one set of slides was evaluated using manual microscopy. The other set was evaluated using an automated microscopy system.


RESULTS
A diagnostic outcome was obtained for all 152 samples using manual microscopy and for 146 of 152 (96%) samples using automated microscopy. Three cases of aneuploidy were detected. For those samples for which a diagnostic outcome was determined by both manual and automated microscopy, 100% concordance was observed. All FISH analysis results were confirmed by karyotype.


CONCLUSIONS
These data suggest that an automated microscopy system is capable of providing accurate and rapid enumeration of FISH signals in amniocytes.
Wauters
Jan
J
Department of Genetics, University of Antwerp, Antwerp, Belgium. jan.wauters@ua.ac.be
Assche
Elvire Van
EV
Antsaklis
Aristidis
A
Tepperberg
James
J
Sharp
S Michael
SM
Kilpatrick
Michael W
MW
Tafas
Triantafyllos
T
Tsipouras
Petros
P
D000293:Adolescent; D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology*; D001331:Automation; D025063:Chromosome Disorders / Q000175:diagnosis*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015203:Reproducibility of Results