Single Tube PCR Identifies Aneuploidies in Embryos

A novel test is being developed for genetic abnormalities during pregnancy.

A single tube multiplex polymerase chain reaction (PCR) 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.

The test needs only a blood sample, in contrast to the invasive screening methods in use today. It will be based on Multiplicom’s (Niel, Belgium) proprietary MASTR (Multiplex Amplification of Specific Targets for Resequencing) workflow.

The noninvasive aneuploidy testing (NIAT) is a novel approach that aims to replace the 250,000 invasive procedures such as amniocentesis and chorionic villus sampling performed annually in Europe. These procedures 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.

Multiplicom, a molecular diagnostics company specializing in the design, development, production, and commercialization of innovative molecular genetic tests based on massively parallel sequencing, has been awarded a USD 260,000 grant from the Flemish agency for Innovation by Science and Technology (IWT).

The grant is intended to support the development of a novel test for genetic abnormalities during pregnancy that needs only a blood sample, in contrast to the invasive screening methods in use today. The test will be based on Multiplicom’s proprietary MASTR (Multiplex Amplification of Specific Targets for Resequencing) workflow.

Dr. Dirk Pollet, CEO of Multiplicom, said: “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.”

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 personalized healthcare available to all.

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