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Prenatal genetic diagnosis using microarray analysis in fetuses with congenital heart defects
Maximilian Schmid1, Susanne Stary, Wibke Blaicher
1Department of Obstetrics and Feto-maternal Medicine, Medical University of Vienna, Vienna, Austria. maximilian.schmid@meduniwien.ac.at
Prenatal Diagnosis
|October 26, 2011
Summary
Genomic microarray analysis effectively detects submicroscopic chromosomal aberrations in prenatal diagnosis, identifying significant copy number variations missed by conventional methods. Careful selection of resolution is key for accurate results in prenatal testing.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Genomic Medicine
Background:
- Conventional cytogenetic methods like karyotyping and fluorescence in situ hybridization (FISH) may fail to detect submicroscopic chromosomal aberrations.
- Congenital heart defects (CHDs) are common birth defects, and identifying their underlying genetic causes is crucial for diagnosis and management.
- Submicroscopic chromosomal abnormalities can lead to developmental disorders and birth defects, necessitating advanced diagnostic tools.
Purpose of the Study:
- To assess the utility of genomic microarray analysis for detecting submicroscopic chromosomal aberrations in prenatal diagnosis.
- To evaluate microarray analysis as a complementary tool to standard cytogenetic techniques in cases with normal karyotypes but suspected genetic abnormalities.
- To determine the diagnostic yield of microarray analysis in fetuses with congenital heart defects.
Main Methods:
- Genomic microarray analysis was performed on 12 singleton fetuses with CHDs and normal karyotype/DiGeorge region FISH results.
- Potentially causal copy number variations (CNVs) were identified at 1 Mb resolution.
- Results were validated using fluorescence in situ hybridization (FISH) and quantitative real-time polymerase chain reaction (qPCR).
Main Results:
- Potentially causal copy number variations were detected in 3 out of 12 fetuses (25%) at 1 Mb resolution.
- Identified aberrations included a terminal deletion on chromosome 15, a duplication on chromosome 17 associated with Potocki-Lupski syndrome, and a mosaic trisomy 7.
- Higher resolution analysis revealed additional aberrations of uncertain significance in another 25% of cases.
Conclusions:
- Microarray analysis is a valuable tool for identifying submicroscopic chromosomal aberrations missed by conventional prenatal diagnostic methods.
- The study highlights the effectiveness of microarray analysis in cases with congenital heart defects and normal standard genetic testing.
- Appropriate selection of microarray resolution is critical for obtaining reliable and diagnostically conclusive data in prenatal testing.
