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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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Evaluation of Microfluidics-FISH method in prenatal diagnosis
Aleksandra Pietrzyk, Małgorzata Ryłów, Marta Bryśkiewicz
1Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland; Cytogenetic Unit, Department of Laboratory Diagnostics, Pomeranian Medical University, Powstańców Wielkopolskich 72, 70-111 Szczecin, Poland. jgron@pum.edu.pl.
Ginekologia Polska
|January 6, 2018
Summary
Microfluidics-FISH offers a rapid, cost-effective method for detecting common aneuploidies in prenatal diagnosis, using smaller amniotic fluid samples. While effective, it complements, rather than replaces, traditional karyotyping.
Area of Science:
- Prenatal Diagnosis
- Cytogenetics
- Molecular Diagnostics
Background:
- Classical cytogenetic analysis is the standard for invasive prenatal diagnosis.
- Novel methods like Microfluidics-FISH are emerging for faster aneuploidy detection.
- FISH (Fluorescence In Situ Hybridization) is a key molecular technique.
Purpose of the Study:
- To compare the effectiveness of Microfluidics-FISH against classical karyotyping and Rapid FISH.
- To evaluate Microfluidics-FISH for detecting common aneuploidies in prenatal samples.
- To assess turnaround time and sample volume requirements.
Main Methods:
- Analyzed 52 amniotic fluid samples.
- Performed classical cytogenetic analysis (karyotyping).
- Utilized Microfluidics-FISH and standard Rapid FISH for aneuploidy screening (trisomies 21, 13, 18, sex chromosome aberrations).
Main Results:
- Microfluidics-FISH and Rapid FISH identified chromosomal aberrations in 9 out of 52 samples, consistent with karyotyping.
- Classical karyotyping detected one additional case of a small supernumerary marker chromosome.
- Microfluidics-FISH demonstrated the shortest turnaround time and smallest average sample volume, proving reliable and cost-effective for common aneuploidies.
Conclusions:
- Microfluidics-FISH is a reliable and cost-effective rapid testing method for common aneuploidies in prenatal diagnosis.
- The method requires a significantly smaller sample volume and offers a shorter turnaround time.
- FISH-based methods, including Microfluidics-FISH, have limitations and cannot solely replace conventional karyotyping for comprehensive diagnosis.
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