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Updated: Jun 3, 2026
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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Diagnosis of chromosomal aneuploidies using quantitative fluorescent PCR
1Department of Obstetrics and Gynecology, University of Graz, Austria.
Methods in Molecular Medicine
|March 11, 2011
Summary
Chromosomal abnormalities affect 1 in 170 newborns. Current prenatal diagnostic methods, while accurate, involve lengthy waiting periods, causing significant parental and clinical burdens.
Area of Science:
- Medical Genetics
- Prenatal Diagnostics
- Cytogenetics
Background:
- Chromosomal abnormalities occur in approximately 1 in 170 liveborn infants.
- Aneuploidies of chromosomes 21, 18, 13, and sex chromosomes are the most common.
- Conventional cytogenetic analysis is the standard for prenatal diagnosis.
Purpose of the Study:
- To highlight the limitations of current prenatal diagnostic techniques.
- To emphasize the need for faster prenatal diagnostic methods.
- To discuss the challenges in implementing rapid diagnostic tests.
Main Methods:
- Review of conventional cytogenetic analysis for prenatal diagnosis.
- Discussion of sample collection methods: amniocentesis, chorionic villus sampling, fetal blood sampling.
- Exploration of attempts to use fluorescent in situ hybridization (FISH) for rapid interphase analysis.
Main Results:
- Conventional cytogenetic analysis provides accurate detection of aneuploidies.
- Fetal cell culture for cytogenetic analysis requires up to two weeks.
- Rapid FISH techniques on interphase nuclei face technical difficulties and are not yet routine.
Conclusions:
- The extended analysis time for conventional cytogenetic methods creates emotional and clinical burdens.
- Rapid prenatal diagnostic answers are crucial when therapeutic interventions are considered.
- Current rapid methods like FISH are not yet reliable for routine prenatal diagnosis.
