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Updated: Jun 20, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
The replacement of cytogenetic analysis by direct chorionic villi sampling preparation with quantitative fluorescence
S Christopoulou1, G Christopoulou, A Hatzaki
1Department of Genetics and Molecular Biology at Mitera General, Maternity, and Pediatric Clinic, Athens, Greece.
Aim:
The aim of this study is to assess the replacement of chromosomal analysis of chorionic villi (CV) direct preparation samples (DIR) by quantitative fluorescence PCR (QF-PCR) and to determine its advantages in routine prenatal diagnosis.
Methods:
From a total of 4,020 CV samples, rapid results were obtained either by conventional cytogenetic analysis of DIR in 2,770 samples, or by QF-PCR analysis in 1,250 samples. The final results were given after long-term culture (LTC).
Results:
The frequencies of unbalanced fetal karyotypes were not significantly different, being 4.8% by DIR-LTC and 4.3% by QF-PCR-LTC. No false-negative or false-positive results were obtained from either approach.
Conclusion:
QF-PCR can replace chromosomal analysis of CV-DIR in most cases during routine prenatal diagnosis, requiring smaller CV samples and being more labor effective. Coupled with LTC, it is a robust diagnostic approach with high predictive value for the most frequent fetal trisomies.
