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Comparative genomic hybridization and prenatal diagnosis.
Ignatia B Van den Veyver1, Arthur L Beaudet
1Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA.
Current Opinion in Obstetrics & Gynecology
|April 8, 2006
Summary
Microarray-based comparative genomic hybridization (array-CGH) offers powerful genetic diagnosis for chromosomal abnormalities. This technology is poised to transform prenatal diagnosis, though clinical implementation requires careful consideration.
Area of Science:
- Genetics
- Genomics
- Molecular Biology
Background:
- Microarray-based comparative genomic hybridization (array-CGH) is a diagnostic tool for detecting aneuploidies, deletions, and duplications.
- Its clinical use for genetic diagnosis in children and adults is established, with growing potential in prenatal settings.
Purpose of the Study:
- To review the current applications and future potential of array-CGH in prenatal diagnosis.
- To discuss how array-CGH findings impact genetic counseling for fetal DNA analysis.
Main Methods:
- Utilizes array-CGH technology on fetal DNA samples obtained via amniocentesis or chorionic villus sampling.
- Explores potential for noninvasive fetal DNA collection from maternal sources.
Main Results:
- Array-CGH demonstrates significant power for genetic diagnosis and gene discovery.
- Oligonucleotide-based arrays offer advanced capabilities, including simultaneous copy number and single nucleotide polymorphism analysis.
- Studies reveal extensive genomic copy number variation, complex translocations, and novel phenotypes linked to DNA copy number changes.
Conclusions:
- Array-CGH is expected to become a standard tool for prenatal diagnosis of chromosomal defects.
- Cautious introduction into clinical practice by experienced laboratories is recommended.