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Prenatal diagnosis: molecular genetics and cytogenetics
The-Hung Bui1, Elisabeth Blennow, Magnus Nordenskjöld
1Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, Karolinska Hospital, Stockholm, Sweden.
Best Practice & Research. Clinical Obstetrics & Gynaecology
|December 12, 2002
Summary
New DNA sequencing technologies enhance prenatal diagnosis of genetic disorders. Advanced techniques like fluorescence in situ hybridization (FISH) improve detection of chromosomal abnormalities and aneuploidies.
Area of Science:
- Genetics
- Molecular Biology
- Medical Diagnostics
Background:
- The Human Genome Project has spurred advancements in DNA sequencing and gene discovery.
- These advancements have led to new technical platforms for prenatal diagnosis of various disorders.
Purpose of the Study:
- To review the enhanced spectrum of disorders diagnosable prenatally due to new technologies.
- To highlight the importance of pre-diagnosis mutation or marker analysis.
- To discuss the role of advanced FISH and quantitative fluorescence polymerase chain reaction in prenatal diagnostics.
Main Methods:
- Review of fluorescence in situ hybridization (FISH) technologies for structural chromosome abnormalities.
- Evaluation of interphase FISH and quantitative fluorescence polymerase chain reaction for aneuploidy diagnosis.
- Discussion of cost-effectiveness and application of these methods.
Main Results:
- FISH offers high resolution for detecting microdeletions, cryptic duplications, translocations, and marker chromosomes.
- Interphase FISH and quantitative fluorescence polymerase chain reaction enable rapid prenatal diagnosis of selected aneuploidies.
- Quantitative fluorescence polymerase chain reaction is cost-effective for large-scale analyses.
Conclusions:
- Advanced molecular technologies significantly expand prenatal diagnostic capabilities.
- FISH and quantitative fluorescence polymerase chain reaction are valuable tools for prenatal diagnosis of chromosomal abnormalities and aneuploidies.
- Debate exists on whether these methods should complement or replace traditional karyotyping in specific patient groups.