Project leader: Dr Helen White

The analysis of circulating fetal nucleic acid present in maternal plasma has the potential to be useful for the non-invasive prenatal diagnosis of:

• fetal sex (for sex linked conditions)
• fetal rhesus D
• paternally transmitted mutations
• aneuploidy

Recent publications which report the identification of a universal marker for fetal DNA (hypermethylated RASSF1A) and a placental specific mRNA transcript from chromosome 21 (PLAC4) (Lo et al., 2007; Chan et al., 2006) have raised the real possibility of transferring a number of genetic diagnoses from the current invasive procedures (chorionic villus sampling and amniocentesis) to a simple and safe blood test taken early in pregnancy. If successful, this will have profound implications for provision of prenatal diagnosis throughout the UK.

NGRL (Wessex) plan to undertake studies to determine the analytical validity of NIPD testing.

Please contact Helen White (hew@soton.ac.uk) for more information.