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Updated: Jun 3, 2026
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.
Insights
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.
Abstract:
The incidence of chromosomal abnormalities in liveborn infants has been established to be about 1 in 170 newborns (1). The most frequent chromosomal anomalies are aneuploidies involving chromosomes 21,18,13, and both sex chromosomes. Prenatal diagnosis of chromosomal disorders is performed by conventional cytogenetic analysis of fetal cells collected by amniocentesis, chorionic villus sampling, or fetal blood sampling. Cytogenetic techniques allow detection of chromosome aneuploidies with great accuracy. The major disadvantage of these procedures is that fetal cells must be cultured for up to two weeks before analysis. This interval of time places a significant emotional and/or clinical burden on the parents and the physician. Moreover, if the fetus is abnormal and there is a potential need for therapeutic measures, a rapid answer is of great importance. Attempts to perform rapid prenatal diagnostic tests by fluorescent in situ hybridization (FISH) on interphase nuclei of amniocytes are still hampered by technical difficulties 2), Consequently, this approach has not yet entered into the realm of routine diagnostic procedures.
