IWT grant supports development of early aneuploidy detection  

Molecular diagnostics company Multiplicom has been awarded a €200,000 ($260,000) grant from the Flemish agency for Innovation by Science and Technology (IWT) intended to support the development of a novel test for genetic abnormalities during pregnancy. The test, to be based on the MASTR (Multiplex Amplification of Specific Targets for Resequencing) workflow, needs only a blood sample in contrast to the invasive screening methods in use today.

Company CEO Dr. Dirk Pollet, said the grant would enable development of “This grant is a strong endorsement of our MASTR technology. It will allow Multiplicom to develop a new assay that will help physicians and patients enhance prenatal medical care while cutting costs. In the future, we see this test entirely replacing current invasive techniques.”

The test, a single tube multiplex PCR reaction starting from fetal DNA isolated from the mother’s blood, allows the identification of copy number variations (or ‘aneuploidies’) of chromosomes 21, 18, 13, X and Y. Such variations cause genetic diseases like Down’s syndrome, Edward’s syndrome, Patau syndrome, triple X syndrome and Klinefelter’s syndrome.

This non-invasive aneuploidy testing (NIAT) is an approach that aims to replace the 250,000 invasive procedures such as amniocentesis and chorionic villus sampling performed annually in Europe, which are time consuming and carry a significant risk of complications during pregnancy. NIAT is not only rapid and safe but is designed to have predictive power superior to that of conventional prenatal testing methods.

Subsequent validation studies will be conducted in close collaboration with hospitals throughout Europe. Multiplicom aims to make the test available to all accredited genetics labs as part of its drive to make personalised healthcare available to all.