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Evangelidou P, Sismani C, Ioannides M, et al. Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations. Mol Cytogenet. 2010;3:24doi: 10.1186/1755-8166-3-24.
Evangelidou, P., Sismani, C., Ioannides, M., Christodoulou, C., Koumbaris, G., Kallikas, I., Georgiou, I., Velissariou, V., & Patsalis, P. C. (2010). Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations. Molecular cytogenetics, 324. https://doi.org/10.1186/1755-8166-3-24
Evangelidou, Paola, et al. "Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations." Molecular cytogenetics vol. 3 (2010): 24. doi: https://doi.org/10.1186/1755-8166-3-24
Evangelidou P, Sismani C, Ioannides M, Christodoulou C, Koumbaris G, Kallikas I, Georgiou I, Velissariou V, Patsalis PC. Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations. Mol Cytogenet. 2010 Nov 26;3:24. doi: 10.1186/1755-8166-3-24. PMID: 21110858; PMCID: PMC3002366.
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Mol Cytogenet. 2010 Nov 26;3:24. doi: 10.1186/1755-8166-3-24.

Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations.

Molecular cytogenetics

Paola Evangelidou, Carolina Sismani, Marios Ioannides, Christodoulos Christodoulou, George Koumbaris, Ioannis Kallikas, Ioannis Georgiou, Voula Velissariou, Philippos C Patsalis

Affiliations

  1. Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. [email protected].

PMID: 21110858 PMCID: PMC3002366 DOI: 10.1186/1755-8166-3-24

Abstract

BACKGROUND: The purpose of the study was the application and evaluation of array Comparative Genomic Hybridization (array CGH) in selected cases during prenatal diagnosis. Array CGH was applied in 25 fetal samples out of which 15 had normal karyotypes and abnormal ultrasound findings and 10 had apparently balanced structural aberrations with or without abnormal ultrasound findings. DNA was extracted from peripheral blood, chorionic villi samples (CV) and amniotic fluid. Bacterial Artificial Chromosome (BAC) array CGH (Cytochip, BlueGnome Ltd.) of 1 Mb was applied and results were confirmed with either Fluorescence In Situ Hybridization (FISH), Multiplex Ligation-dependant Probe Amplification (MLPA) or Real-Time PCR.

RESULTS: Three out of 25 samples (12%), referred for prenatal array CGH, were found to carry copy number alterations. The number of cases with clinically significant alterations was 2/25 (8%), while one (4%) was of uncertain clinical significance. Two benign Copy Number Variations (CNVs) were also found in 1/25 cases (4%).

CONCLUSIONS: The outcome of this study indicates the ability of array CGH to identify chromosomal abnormalities which cannot be detected during routine prenatal cytogenetic analysis, therefore increasing the overall detection rate.

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