New Test for Down Syndrome Safer for Moms and Babies
Testing for Down Syndrome in mothers-to-be that were at risk either because of age or medical history just got a lot less invasive. Prior to the news today, testing for Down Syndrome required an invasive procedure called amniocentesis that put both mother and baby at potential risk. The existing procedure involved extraction of either amniotic fluid or placenta via insertion of a needle into the mother's abdomen in order to test for the presence of an extra chromosome Tirsomy 21 which is responsible for the genetic disease that causes mental deficiencies.
San Diego biotech company Sequenom announced that starting Monday, mothers-to-be can undergo a simple blood test to determine as early as ten weeks into the pregnancy whether or not the chromosome abnormality exists. The test called MaterniT21 only requires a blood sample in order to detect the Tristomy 21 chromosome. The company is reporting that in its own studies the test has claimed a 99.1 percent accuracy. That is signficant compared to the traditional testing which has a 5% inaccuracy rating.
The new blood test will be available in 20 major cities by Monday according to Sequenom and is expected to cost $1,900 - roughly the same as the present amniocentesis testing. The tests will be ordered by the mother's physician and blood will be sent directly to Sequenom's laboratories for analysis.
With the announcement of the new and less invasive test comes a great deal of criticism. Many are concerned that the simplicity of the testing will encourage more pregnancy terminations. According to the New York Times, Dr. Brian G. Skotok of Down Syndrome program at Boston's Children's Hospital remarked "The number of American women who will have to grapple with this information prenatally will substantially increase." Certainly, the coming weeks will bring with it a great deal of debate over the subject matter. The biotech company Sequenom is not a stranger to adversity, having faced a great deal of bad publicity in recent years due to a scandal regarding the mishandling of clinical data related to another Down Syndrome test it was developing. That scandal resulted in the several legal and regulatory probes and a change in the company's top levels of management.