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

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 appa...

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Autores principales: Evangelidou, Paola, Sismani, Carolina, Ioannides, Marios, Christodoulou, Christodoulos, Koumbaris, George, Kallikas, Ioannis, Georgiou, Ioannis, Velissariou, Voula, Patsalis, Philippos C
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002366/
https://www.ncbi.nlm.nih.gov/pubmed/21110858
http://dx.doi.org/10.1186/1755-8166-3-24
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author Evangelidou, Paola
Sismani, Carolina
Ioannides, Marios
Christodoulou, Christodoulos
Koumbaris, George
Kallikas, Ioannis
Georgiou, Ioannis
Velissariou, Voula
Patsalis, Philippos C
author_facet Evangelidou, Paola
Sismani, Carolina
Ioannides, Marios
Christodoulou, Christodoulos
Koumbaris, George
Kallikas, Ioannis
Georgiou, Ioannis
Velissariou, Voula
Patsalis, Philippos C
author_sort Evangelidou, Paola
collection PubMed
description 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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spelling pubmed-30023662010-12-16 Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations Evangelidou, Paola Sismani, Carolina Ioannides, Marios Christodoulou, Christodoulos Koumbaris, George Kallikas, Ioannis Georgiou, Ioannis Velissariou, Voula Patsalis, Philippos C Mol Cytogenet Research 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. BioMed Central 2010-11-26 /pmc/articles/PMC3002366/ /pubmed/21110858 http://dx.doi.org/10.1186/1755-8166-3-24 Text en Copyright ©2010 Evangelidou et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<url>http://creativecommons.org/licenses/by/2.0</url>), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Evangelidou, Paola
Sismani, Carolina
Ioannides, Marios
Christodoulou, Christodoulos
Koumbaris, George
Kallikas, Ioannis
Georgiou, Ioannis
Velissariou, Voula
Patsalis, Philippos C
Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
title Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
title_full Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
title_fullStr Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
title_full_unstemmed Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
title_short Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
title_sort clinical application of whole-genome array cgh during prenatal diagnosis: study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002366/
https://www.ncbi.nlm.nih.gov/pubmed/21110858
http://dx.doi.org/10.1186/1755-8166-3-24
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