UCL to research non-invasive diagnostic tests during pregnancy

Professor Lyn Chitty (UCL Institute of Child Health) is leading a five-year research project to evaluate and, if appropriate, develop a plan to implement tests which could significantly reduce the number of women undergoing invasive tests during pregnancy such as amniocentesis. Invasive tests carry around a one per cent risk of miscarriage, so each thousand invasive tests avoided would potentially save ten healthy babies. With 25,000 invasive tests for Down's syndrome and 1,500 invasive tests per year for genetic disorders such as cystic fibrosis, sickle cell disease, and Huntington's disease, the potential to avoid risk to the foetus and anxiety to the family is significant. The multi-centre research programme is called RAPID (Reliable accurate prenatal non-invasive diagnosis) and is funded by the National Institute for Health Research (NIHR). The tests are based on cell-free foetal DNA from the developing baby, which can be found in the mother's bloodstream. Tests involve taking a blood sample from the mother, centrifuging it, and then finding ways to analyse the baby's DNA. This test is already offered for clinical use for sex determination in families at high risk of sex-linked inherited diseases, and for identifying whether the babies of Rhesus D- mothers are Rhesus D+ or Rhesus D-.