Simple Blood Test Could Soon Determine If a Fetus Has Down Syndrome


Recently, my triple screen came back positive for Trisomy 18. After many ultrasounds, worry, and an amniocentesis, we were able to determine the baby boy growing in belly did not have any chromosomal abnormalities. However, I wish there had been a safer way to determine these results. Thankfully, I read an article yesterday in the Los Angeles Times that has given me a glimmer of hope.

Researchers from the University of Hong Kong say women may soon be able to find out with a simple blood test very early in their pregnancies whether or not the baby they are carrying may have Down syndrome.

Study leader Rossa Chiu and her researchers have been working on a DNA-based test for almost a decade, and have finally released the results of their study. In their largest study, researchers analyzed blood from 753 pregnant mothers. The DNA test was able to identify every single case of Down syndrome with only a few false positives.

What makes this test so incredible is that it’s noninvasive and can be done in about the 13th week of pregnancy. Until now, the only way to know 100% your baby has Down syndrome is to have a amniocentesis or CVS test, and both invasive tests run the risk of miscarriage. Having recently gone through the amniocentesis myself, I know how truly terrifying the experience can be. Although Down syndrome is the only genetic test available now, Chiu and her researchers are sure more are to follow, and this has me very hopeful.

The DNA test and technology from Hong Kong University have been licensed by Sequenom Inc. and are expected to be available to high-risk woman as early as 2012.

To read the Los Angeles Times article, Click here.