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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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High Performance DNA Probes for Perinatal Detection of Numerical Chromosome Aberrations
Kalistyn H Lemke1, Jingly F Weier2, Heinz-Ulrich G Weier1
1Life Sciences Division, University of California, E.O. Lawrence Berkeley National Laboratory (LBNL), Berkeley, USA.
Advanced Techniques in Biology & Medicine
|February 9, 2016
Summary
This study reviews molecular techniques for detecting fetal chromosomal abnormalities. Advances in fluorescence in situ hybridization (FISH) offer improved diagnosis of numerical chromosome abnormalities, aiding in managing the burden on families and society.
Area of Science:
- Reproductive biology
- Human genetics
- Prenatal diagnostics
Background:
- Human reproduction involves gamete production, fertilization, and embryonic development.
- Chromosomal abnormalities can lead to pregnancy loss or live births with developmental challenges.
- Caring for children with numerical chromosome abnormalities presents significant personal, financial, and ethical challenges.
Purpose of the Study:
- To review molecular techniques for testing fetal cells for chromosomal imbalances.
- To highlight advancements in fluorescence in situ hybridization (FISH) for prenatal diagnosis.
- To discuss novel chromosome-specific DNA probes for improved diagnostic accuracy.
Main Methods:
- Review of molecular techniques for analyzing fetal cells.
- Focus on fluorescence in situ hybridization (FISH) for direct visualization of DNA sequences.
- Discussion of recent progress in developing novel, chromosome-specific DNA probes.
Main Results:
- Molecular techniques enable testing of individual fetal cells for chromosomal imbalances.
- Fluorescence in situ hybridization (FISH) allows direct visualization of chromosome-specific DNA sequences.
- Recent advancements have led to improved diagnostic capabilities for chromosomal abnormalities.
Conclusions:
- Improved molecular techniques, particularly FISH with novel probes, enhance the diagnosis of fetal chromosomal abnormalities.
- Accurate prenatal diagnosis can help families prepare for the challenges associated with raising a child with trisomy.
- Advancements in diagnostics contribute to societal understanding and ethical considerations of numerical chromosome abnormalities.
