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Updated: Jun 13, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from
Maitreyee Deshpande1, Joyce Harper, Melissa Holloway
1UCL Centre for PG&D, Institute for Women's Health, University College London, London, United Kingdom.
Objective:
The aim of this study was to evaluate the use of array comparative genomic hybridization (aCGH) for genetic analysis of chorionic villus sampling (CVS) from pregnancy loss. aCGH results were compared with results from karyotyping and multiplex ligation-dependent probe amplification (MLPA) analysis to assess the suitability of aCGH as a method for detecting a variety of known chromosomal abnormalities. It was determined which technique gave the most valuable information.
Method:
Twenty anonymised samples from CVS were analyzed by aCGH, MLPA, and karyotyping.
Results:
Ten cases were identified as normal by all three methods. Aneuploidy was detected in four cases by all three methods. Partial deletion and duplication was detected in two cases by aCGH and karyotyping but missed by MLPA. In addition, mosaicism was detected by aCGH in 3 of 20 cases missed by MLPA and karyotyping.
Conclusion:
aCGH is a rapid, automated, reliable, high-resolution technique to diagnose unbalanced chromosomal abnormalities. In this study, aCGH analysis accurately identified all chromosomal abnormalities in CVS from pregnancy loss, suggesting that it is suitable in the clinical setting for prenatal diagnosis.
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