Sequenom has developed a non-invasive prenatal test that may replace the amniocentesis tests that are performed 450,000 times a year in the US. Both of these tests are done to detect chromosomal defects, such as Downs Syndrome and Trisomy, while an unborn baby is still in the womb. The main difference being that an amniocentesis test requires a needle be injected into a mother’s womb to withdraw some amniotic fluid, whereas, the Sequenom test, named SEQureDx^TM, detects defects via a simple blood test taken from the mother.

Beyond avoiding the unpleasantness of an amniocentesis test, the more important difference is the fact that the pregnant mother avoids the risks associated with the test altogether. It gets better…, the Sequenom test is a “home-brewed test” allowing an expectant mother to perform the simple test at home and as early as the end of the first trimester.

These tests will be available in June 2009. For more information: Sequenom

In trials the test performs extremely well with no false positives and 99.1% detection rate of abnormalities. These numbers are astounding and the tests should become popular with doctors and patients and widely used for prenatal screening.