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Updated: Jun 4, 2026
09:16
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
PGD for a complex chromosomal rearrangement by array comparative genomic hybridization
E Vanneste1, C Melotte, T Voet
1Center for Human Genetics, UZ Gasthuisberg, 3000 Leuven, Belgium.
Human Reproduction (Oxford, England)
|February 5, 2011
Summary
Preimplantation genetic diagnosis using single-cell array comparative genomic hybridization can identify chromosomal rearrangements. This technology shows promise for preventing chromosomally unbalanced conceptions in carriers.
Area of Science:
- Reproductive Medicine
- Genetics
- Embryology
Background:
- Patients with chromosomal rearrangements (CRs) face increased risks of chromosomally unbalanced conceptions.
- Preimplantation genetic diagnosis (PGD) aims to improve pregnancy success by avoiding the transfer of chromosomally abnormal embryos.
Observation:
- Single-cell array comparative genomic hybridization (aCGH) offers genome-wide imbalance detection, surpassing the limited loci screened by fluorescence in situ hybridization.
- PGD was performed for a CR carrier using aCGH, selecting embryos based on copy number status of rearranged chromosomes.
Findings:
- Two ICSI-PGD cycles analyzed 16 embryos, yielding 4 suitable for transfer.
- The transferred embryo resulted in pregnancy but ended in miscarriage; subsequent analysis revealed mosaicism in chorionic tissue, with some cells showing monosomy 9.
- Single-cell array technology demonstrated 100% sensitivity and 88.8% specificity for detecting chromosomal imbalances related to CRs.
Implications:
- This study confirms the feasibility and accuracy of single-cell aCGH for PGD in CR carriers.
- The findings highlight that the genomic status of extra-embryonic tissue may not always correlate with that of a single biopsied blastomere.
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