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, 5 (1), 33

Array-based Comparative Genomic Hybridization Is More Informative Than Conventional Karyotyping and Fluorescence in Situ Hybridization in the Analysis of First-Trimester Spontaneous Abortion

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Array-based Comparative Genomic Hybridization Is More Informative Than Conventional Karyotyping and Fluorescence in Situ Hybridization in the Analysis of First-Trimester Spontaneous Abortion

Jinsong Gao et al. Mol Cytogenet.

Abstract

Background: Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications, and can overcome many of the limitations associated with classic cytogenetic analysis. However, its clinical use in spontaneous abortion needs comprehensive evaluation. We used aCGH to investigate chromosomal imbalances in 100 spontaneous abortions and compared the results with G-banding karyotyping and fluorescence in situ hybridization (FISH). Inconsistent results were verified by quantitative fluorescence PCR.

Results: Abnormalities were detected in 61 cases. aCGH achieved the highest detection rate (93.4%, 57/61) compared with traditional karyotyping (77%, 47/61) and FISH analysis (68.9%, 42/61). aCGH identified all chromosome abnormalities reported by traditional karyotyping and interphase FISH analysis, with the exception of four triploids. It also detected three additional aneuploidy cases in 37 specimens with 'normal' karyotypes, one mosaicism and 10 abnormalities in 14 specimens that failed to grow in vitro.

Conclusions: aCGH analysis circumvents many limitations in traditional karyotyping or FISH. The accuracy and efficiency of aCGH in spontaneous abortions highlights its clinical usefulness for the future. As aborted tissues have the potential to be contaminated with maternal cells, the threshold value of detection in aCGH should be lowered to avoid false negatives.

Figures

Figure 1
Figure 1
Chromosome distribution of 61 abnormalities within (white column, 43 cases) or beyond (black column, 18 cases) FISH probe sets. Approximately 30% of abnormalities could not be detected using these seven FISH probes. Most chromosome abnormalities were aneuploids, with the exception of four triploids and three segmental imbalances. *Segmental imbalances included one del 7p21.3-22.3, one dup 9p and one del 18p. The del 18p was not detected by FISH analysis as the probe was targeted at the centromere of chromosome 18. Chr: Chromosome.
Figure 2
Figure 2
Electrophoretograms of QF-PCR amplifications in case 37. The x-axis shows the length of the PCR products in base pairs and the y-axis shows the fluorescence intensity in arbitrary units. DNA samples were amplified with two markers for chromosome 14: D14S985 (blue) and D14S1007 (green). Both markers are informative and show two peaks with a 2:1 ratio, confirming the result of trisomy 14 in array CGH.

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