The pilot study is due to last 12 months and will use the arrays alongside existing screening techniques for selected prenatal screens. Researchers from OGT are collaborating closely with the Center’s constitutional cytogenetics laboratory headed by Professor Joris Vermeesch. Joris explained: “We have worked closely with OGT for some time now and have a good working relationship. This particular project is a clinical study with a strong research component. We are investigating the extent to which high resolution aCGH can improve diagnosis in selected cases that show normal karyotype results but abnormal developmental phenotypes. In addition, for research purposes, we are cataloguing unknown genetic abnormalities to help us better understand genetic variation in the future.”
John Anson, Research and Development Director at OGT, added: “By bringing together OGT’s expertise in microarray development and the Center’s extensive experience in diagnostic testing, it is hoped that the higher resolution of the CytoSure arrays will enhance the understanding of genetic variations. This should ultimately improve prenatal services in Europe by offering better clinical diagnosis and genetic counselling.”
About prenatal testing
In Europe, prenatal diagnostic testing is conducted only in cases where healthcare professionals believe there to be a high risk of complications, or where ultrasound scanning has shown abnormal development. The tests must be performed on material taken from amniocentesis and chorionic villus sampling, and so are invasive and unnecessary for the majority of pregnancies.
Currently, diagnostic testing is performed using a technique known as karyotyping, which involves staining of chromosomes with a range of colorimetric or fluorimetric dyes sensitive to the sequence of DNA, and then analysing the resulting patterns. This technique allows detection of additional copies of chromosomes and large scale copy number variations in the region of 5-10 megabases or more. By comparison, aCGH provides much higher resolution sequence data, potentially offering far greater insight into the underlying genetic cause of abnormal development.
About Oxford Gene Technology
Founded in 1995 by Professor Ed Southern, OGT has a proven pedigree in microarray technology and services. Our mission is to advance molecular medicine through pioneering discovery and application of molecular technologies. OGT’s key focus areas are: high throughput microarray services and biomarker discovery, cytogenetics, single cell analysis, and licensing.
OGT’s products and services for cytogenetics include a range of high resolution oligonucleotide arrays, labelling kits and analysis software that together provide a unique, comprehensive solution for the detection of chromosomal abnormalities.
