Professor Asma Khalil, Consultant Obstetrician at St George’s, is part of a collaborative partnership with Horizon Discovery Group plc and the European Molecular Genetics Quality Network (EMQN) to develop quality standards for non-invasive prenatal testing (NIPT).
NIPT is an alternative to invasive diagnostic procedures, such as amniocentesis. These invasive tests carry a small risk of miscarriage whereas NIPT, being a simple blood test for the mother, is completely safe.
NIPT uses cutting edge DNA technology to evaluate with remarkable accuracy whether a pregnancy has a high chance of certain chromosomal conditions, such as Down’s syndrome.
This is possible because during pregnancy, some of the baby’s DNA crosses the placenta into the mother’s bloodstream, and this can usually be identified by the laboratory. The baby’s DNA can then be tested for various genetic abnormalities.
The use of NIPT is increasingly common. However, there is a small chance of false positives or false negative result. These incorrect results can have a major clinical impact.
A false negative result can mean that a genetic abnormality of the baby is missed. On the other hand, a false positive result can result in further, unnecessary invasive testing (such as amniocentesis) which carries a risk of miscarriage.
There is therefore an urgent need to develop quality standards to ensure that the tests are accurate across all organisations using it.
Professor Asma Khalil said: “There is increasingly widespread adoption of NIPT, both in the UK and internationally. Incorrect results can have detrimental effects on women and their babies; it is essential that we clinicians and parents can have confidence that test results are accurate.”
The project is supported by funding from Innovate UK, the UK’s innovation agency.