Invasive testing techniques such as amniocentesis and chorionic villus sampling can pose an increased risk during pregnancy, which can be avoided by testing for cell free fetal (cff) DNA in maternal blood. A study performed at the Regional Molecular Genetics Service in Manchester showed that a combination of techniques can improve sensitivity and specificity of sex determination of free fetal DNA. With NIPD starting to be offered by some NHS laboratories this project will confirm laboratory standards for NIPD for fetal sex determination, single gene disorders and Down's syndrome, evaluate its analytic and clinical validity, clinical utility and ethical, legal and social aspects, and develop an implementation plan to develop NIPD as an NHS service.

The NGRLs are contributing to a multi-centre project co-ordinated by Dr Lyn Chitty at the Institute of Child Health entitled "Reliable Accurate Prenatal Non-Invasive Diagnosis" or RAPID. The NHS National Institute for Health Research (NIHR) has awarded a £2m grant to the project, which will run from early 2009 until 2014, intending to lead to the implementation of NIPD on a clinical level in the NHS. Our role involves the development of a quality assurance programme.
 

NGRL Wessex NIPD project information