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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

Paola Evangelidou1, Carolina Sismani1, Marios Ioannides1, Christodoulos Christodoulou1, George Koumbaris1, Ioannis Kallikas2, Ioannis Georgiou3, Voula Velissariou4 and Philippos C Patsalis1*

Author Affiliations

1 Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

2 Ultrasound and Fetal Medicine Centre, Nicosia, Cyprus

3 Medical School, University of Ioannina, 45110 Ioannina, Greece

4 Mitera Maternity, Gynecological, and Children's Hospital, Department of Genetics and Molecular Biology, Athens, Greece

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Molecular Cytogenetics 2010, 3:24  doi:10.1186/1755-8166-3-24

Published: 26 November 2010

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.