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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH
Weimin Bi1, Amy M Breman, Susan F Venable
1Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Prenatal Diagnosis
|September 17, 2008
Summary
Prenatal diagnosis is feasible using oligonucleotide array comparative genomic hybridization (array CGH) directly on uncultured amniocytes. This method offers increased sensitivity and accuracy for detecting chromosomal abnormalities, improving reporting times.
Area of Science:
- Genetics
- Prenatal Diagnostics
- Genomic Analysis
Background:
- Oligonucleotide-based array comparative genomic hybridization (array CGH) is a standard technique for identifying chromosomal abnormalities.
- The use of uncultured amniocytes for array CGH has been explored to streamline prenatal genetic testing.
Purpose of the Study:
- To assess the feasibility of performing array CGH directly on DNA extracted from uncultured amniocytes.
- To evaluate the performance of oligonucleotide array CGH for prenatal genetic diagnosis.
Main Methods:
- DNA was extracted from uncultured amniocytes obtained from 15 fetuses across 14 pregnancies.
- Array CGH was performed using targeted oligonucleotide arrays.
- Whole genome amplification (WGA) was utilized for samples with limited DNA amounts.
Main Results:
- High-quality array CGH results were achieved for 13 out of 15 samples.
- Suboptimal but interpretable results were obtained for two samples with limited DNA; WGA resolved these issues.
- Array CGH results were consistent with conventional chromosome analysis in 14 cases.
Conclusions:
- Direct array CGH analysis of uncultured amniocytes is a feasible method for prenatal genetic diagnosis.
- Oligonucleotide arrays provide enhanced sensitivity and accuracy compared to older bacterial artificial chromosome (BAC)-based arrays.
- Direct analysis shortens the reporting time for array CGH results, enabling faster genetic diagnosis.
