Rapid Prenatal Diagnosis of Chromosome Abnormalities

SY Tan, WB Chan, WC Cheng, A Hargarty, KT Lim, R Quaife
Correspondence: R Quaife

ABSTRACT
The aim of the present work was to examine the efficacy of using FISH for the rapid prenatal diagnosis of common chromosome aneuploidies. A total of 100 analyses over a six month period were included in the study. Diagnosis was possible in all cases. A mosaic for trisomy 21 proved, by comparison with an extensive analysis of long term cultures, to be an apparent false positive. Otherwise the technique was reliable, accurate and relatively straightforward to perform. Results could be available within 24 hrs. In most cases an additional long term full analysis was also done, so as to exclude rarer aneuploidies and structural rearrangements. This methodology is seen as a useful addition to the prenatal diagnostic repertoire.

Keywords: Chromosome, Aneuploid, FISH, Prenatal, Probe
Singapore Med J 2000; 41(10): 493-497