Recently, European scientists found that they could accurately diagnose Down syndrome through a blood test given to pregnant women. This new procedure gives hope that in the future pregnant women could evade the more invasive procedure that is currently used to test for Down syndrome.
The journal Nature Medicine published the online preliminary report on March 6. It is the most recent of many current studies that indicate that scientists can now pinpoint Down syndrome through fetal DNA found in the mother’s bloodstream.
Having an extra specific chromosome constitutes Down syndrome. Presently, pregnant women have a blood test and an ultrasound to see if the fetus is at risk for Down syndrome. To make absolutely sure of an accurate diagnosis, doctors extract a sample of amniotic fluid or the placenta. This procedure, called an amniocentesis, can cause some uncomfortable pressure, pain and even a risk of miscarriage.