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 a more accurate screening test than the current combined or quad screen as it is a simple blood test for the mother. With a more accurate likelihood from NIPT, women may then decide if they wish to have a diagnostic test which carries a small risk of miscarriage.

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, the placental DNA can be identified and then be tested for various genetic conditions.

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 variation 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.

Notes to editors

For Horizon’s press release, please click here.

For more information, please contact Pippa Harper, Media Manager at St George’s via or 020 8266 6128.