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Updated: May 26, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
[Optimized procedure for fluorescence in situ hybridization in rapid prenatal diagnosis of common aneuploidy]
1Department of Obstetrics and Gynecology, Southern Medical University, Guangzhou, People's Republic of China.
Objective:
To optimize the procedure of fluorescence in situ hybridization (FISH), and evaluate it in rapid prenatal diagnosis of common aneuploidy.
Methods:
Amniotic fluid samples from 300 pregnant women were tested by both interphase FISH and conventional cell culture for karyotyping from September 2009 and September 2010.
Results:
Seven cases of trisomy 21, 4 of trisomy 18, 2 of monosomy X, 1 of XXY, 1 of XXX, and 1 of triploidy were detected by FISH in the 300 amniotic fluid samples. It was concordant with the results from conventional karyotype analysis. The concordance rate was 100%.
Conclusion:
Through a technical modification of FISH procedure, the detection accuracy and specificity was not affected but testing cost reduced greatly. It can be used in rapid prenatal diagnosis of common aneuploidy.

