2006 Grants

Entry-Level Research Scholarships

Use of array comparative genomic hybridisation (CGH) in the investigation of fetal abnormality. Dr Kelly Cohen, University of Leeds £20,000

Use of array comparative genomic hybridisation (CGH) in the investigation of fetal abnormality

The growth of antenatal scanning has resulted in the identification of increasing numbers of pregnancies complicated by fetal anomalies, but the significance of these is often unclear. Previous studies have shown that a proportion of anomalies are the consequence of chromosomal imbalances that are not detectable by conventional techniques, even with very high quality preparations.

A new technique, array comparative genomic hybridisation (CGH), allows a survey of the whole genome to be performed at a much higher resolution than is achievable with conventional techniques. This project will be using this technique to study samples from women undergoing chorionic villus sampling (CVS) and amniocentesis in the investigation of ultrasound abnormalities.

The researcher will analyse the samples to determine if submicroscopic imbalances can be detected in material obtained at antenatal investigation. The anomalies found will be documented and clinical follow-up will be established to look at their significance. This approach will increase the knowledgebase on the causes of fetal anomaly, and will establish a new technique for the investigation of these problems. It will also enable the autonomy of women in these crucial situations, by allowing them to make decisions from a position of maximum available information.

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