His research shows that nuchal translucency can detect up to 80 percent of cases of Down syndrome and up to 60 percent of congenital heart defects. Nuchal translucency screenings can be beneficial for all pregnant women, not just those who have a higher risk for delivering a child with birth defects, Yankowitz said. Then, we can tell the couple what their risk is for having a child with a birth defect and help them decide if they should go on to have additional testing such as an amniocentesis or chorionic villus sampling. Those techniques are quite safe, but they are more invasive and they do pose more of a risk for a miscarriage. If an abnormality is detected, couples may decide to either terminate or continue the pregnancy.
Most couples are very glad just to know what to expect.
If we know in advance that defects are likely, we can prepare to have the child delivered here to ensure that the baby receives the specialized care he or she will require, and we can prepare the family to help meet the child's special needs, as well. Other medical centers in the U.S. are also now offering the technique. We believe that it will quickly become very accepted practice and that women will soon begin to demand it. Nuchal translucency is a new, less invasive way to detect possible birth defects in early pregnancy. The process involves the use of an ultrasound examination to measure the skin thickness of the back of the neck of the fetus.