J Genet Med.  2007 Dec;4(2):190-195.

Rapid detection of aneuploidy using FISH in uncultured amniocytes for prenatal diagnosis : 8-year experience

  • 1Hamchoon Institute Of Fertility & Genetics, Seoul, Korea. doyhwang@hamchoon.com
  • 2Institute Of Reproductive Medicine And Population Medical Research Center, Seoul National University, Seoul, Korea.


FISH is suggested as a useful tool for rapid detection of specific aneuploidy in uncultured amniocytes abnormality in interphase nucleus. In this study, we are going to share our experience using FISH in prenatal diagnosis and suggest the criteria for the diagnosis of aneuploidy by analyzing the results of FISH test.
From January, 1999 to May, 2006, 8,613 tests in amniotic fluids obtained from 7,893 pregnant women were performed by using FISH for prenatal diagnosis of trisomy 21, trisomy 18 and trisomy 13. The indications of chromosome study were a screen positive for Down syndrome or Edwards syndrome in maternal serum marker screening test and an advanced maternal age (> or =35 years old).
We have the 8,502 informative results from 8,613 tests (98.7%) which is submitted our criteria and the sensitivity is 98.2%.
FISH on uncultured amniocytes is a rapid, clinically useful tool for prenatal diagnosis, with informative specimens being highly accurate. But the limitation of FISH is both expensive and labor-intensive.


Trisomy 21; Trisomy 18; fluorescence in situ hybridization (FISH); uncultured amniotic fluid cells; criteria
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