Blood test for Down's Syndrome?

Prenatal testing to determine whether a baby has birth defects are often invasive, and expectant parents have to weight the wish to know about their baby's health with the risks that are involved. Down's Syndrome is one of the more common concerns perhaps because it is the most frequent cause of mental retardation. Soon, there may be an alternative to invasive tests such as amniocentesis, which are not without risk.

Scientists from Cyprus developed a blood test that could predict the likelihood a baby has Down's Syndrome. The new test involves a comparison of maternal and fetal DNA to assess which babies are at risk and has so far been tested on 40 pregnancies. Philippos Patsalis, the medical director of the Cyprus Institute of Neurology and Genetics, called the results "very exciting" and was hoping to move forward with a larger trial involving 1,000 pregnancies. "We believe we can modify this test and make it much easier and simple... (and then) we can have something ready to be introduced into the clinic," he said to Reuters.

If further trials prove to be successful and this test is introduced to the market, it could eliminate the need for an amniocentesis (see amniocentesis what it is and how it works for more info) to test for Down's Syndrome. That would be great news because it is a procedure that can cause miscarriage and preterm labor. The scientists who are working on the new blood test declared: "Such a non-invasive approach will avoid the risk of miscarriages of normal pregnancies caused by current, more invasive procedures."

However, we should remember that this is still a screening test, and not a diagnostic test. Analyzing maternal blood, which includes information about the baby's DNA during pregnancies, will certainly be an improvement for those who want to know whether their baby has Down's. We'll keep you informed of any further developments.