Non-invasive prenatal diagnosis

Prenatal diagnosis is used to diagnose a genetic disease, chromosomal abnormality or condition in a developing foetus. Material for testing is commonly obtained by amniocentesis or chorionic villus sampling. These procedures are invasive and generally accepted as risky, whereby 1-2% of all procedures result in spontaneous miscarriage of the foetus. Non-Invasive Prenatal Diagnosis (NIPD) will eliminate all such procedural risk to the foetus, and will enable the expansion of prenatal testing in general. A preferred target cell for NIPDs are foetal erythroblasts which are present in maternal blood. Until now there have been no truly foetal erythroblast specific markers. A number of these have been identified by comparison to their adult counterparts by using post-genomic technologies.

Lead researcher: Professor Neil Avent

For more information about non-invasive prenatal diagnosis, please contact us.