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Updated: May 21, 2026

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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Array comparative genomic hybridization: its role in preimplantation genetic diagnosis
1GENOMA Molecular Genetics Laboratory, Rome, Italy. fiorentino@laboratoriogenoma.it
Current Opinion in Obstetrics & Gynecology
|June 26, 2012
Summary
Preimplantation genetic screening (PGS) analyzes all chromosomes for abnormalities, improving IVF outcomes. Ongoing trials will determine if PGS enhances live birth rates and identify suitable patient groups.
Area of Science:
- Reproductive Medicine
- Genetics
- Embryology
Background:
- In vitro fertilization (IVF) success is significantly impacted by embryo assessment.
- Chromosomal abnormalities in embryos reduce the likelihood of a viable pregnancy.
- Array comparative genomic hybridization offers comprehensive aneuploidy screening.
Purpose of the Study:
- To review the application of preimplantation genetic diagnosis for comprehensive aneuploidy screening in IVF.
- To assess the potential of improving IVF outcomes through embryo genetic screening.
Main Methods:
- Review of data from comprehensive aneuploidy screening studies.
- Analysis of initial clinical application studies of preimplantation genetic screening (PGS).
Main Results:
- Aneuploidies can affect any of the 24 chromosomes, necessitating screening of all.
- Early studies indicate improved pregnancy outcomes with screened embryo transfer.
- The optimal developmental stage for PGS remains undetermined.
Conclusions:
- Clinical results for PGS are promising but require further validation.
- Evidence is needed to confirm enhanced live birth rates and identify patient benefits.
- Ongoing randomized controlled trials will clarify the clinical efficacy of PGS.
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Overview
FISH - Fluorescent In-situ Hybridization
Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...

