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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting
Idit Maya1, Bella Davidov, Liron Gershovitz
1The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel. iditma@clalit.org.il
Prenatal Diagnosis
|October 7, 2010
Summary
Array-based comparative genomic hybridization (aCGH) offers valuable insights in prenatal genetic testing. This study found aCGH detected new abnormalities in 18 cases, aiding genetic counseling and risk assessment.
Area of Science:
- Genetics
- Prenatal Diagnosis
Background:
- Array-based comparative genomic hybridization (aCGH) is an emerging technique for identifying submicroscopic chromosomal deletions and duplications.
- Limited data exists on its application in prenatal genetic testing.
Purpose of the Study:
- To evaluate the utility of prenatal aCGH in a clinical setting.
- To assess the diagnostic yield of aCGH for detecting submicroscopic chromosomal abnormalities in pregnancies.
Main Methods:
- Conducted 269 prenatal aCGH tests between 2006 and 2009.
- Indications included fetal anomalies on ultrasound, advanced maternal age, family history, parental concern, abnormal karyotypes, and abnormal biochemical screening.
- Analyzed results based on prior karyotype status.
Main Results:
- In 15 cases with known abnormal karyotypes, aCGH confirmed unbalanced chromosomes in 4 cases (leading to termination) and showed normal results in 11 cases (allowing continuation of pregnancy).
- In 254 cases with normal karyotypes, aCGH identified new abnormalities in 3 cases, resulting in termination.
- Overall, aCGH provided clinically relevant new information in 18 cases.
Conclusions:
- Prenatal aCGH is recommended, especially for pregnancies with abnormal ultrasound findings.
- The detection rate of abnormalities in low-risk pregnancies was 1:84.
- Larger studies are necessary to validate these findings and expand knowledge on prenatal aCGH utility.
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