Aneuploidy is a significant social and medical problem. The possible solution is an early accurate testing of a fetus during embryonal development. We have a project kit for aneuploidy detection in the fetus DNA using a pregnant mother's blood. It is based on the digital PCR method, which provides the high diagnostic performance and makes it available for every PCR-equipped laboratory.
Novel kits for early noninvasive detection of fetal chromosomal abnormalities (Down syndrome) are being developed in partnership with Genext (direct link). The syndrome is characterized by varying degree of mental retardation and may lead to birth defects. The test-system allows to detect Down syndrome in the fetus using pregnant woman blood since 10th week of pregnancy. The patient can submit to test as in the case of usual biochemical blood test - only 10 ml of blood should be drawn from a vein.
Then the risk of fetal chromosomal abnormalities is identified by interpretation of the results of fetal DNA testing. Nowadays it is possible to suspect this genetic disease during pregnancy by ultrasonography.