Down’s syndrome is a congenital disorder that occurs when a child has three copies of the 21st chromosome and causes distinctive physical features such as slant eyes, small stature and mild to moderate cognitive impairment.
Down’s syndrome also increases risk of developing other problems such Alzheimer’s, heart defects, leukemia, thyroid imbalances as well as respiratory and hearing difficulties. It is seen to occur in one out of 733 babies born.
A new blood test will be able to detect Down’s syndrome as early as 8 weeks gestation, researchers expressed the hope, whereas other tests to detect the disorder such as amniocentesis and chorionic villus sampling (CVS) are invasive and pose potential risks to the developing fetus.
CVS requires removing a small portion of the placenta for testing purposes, and amniocentesis involves inserting a needle in the uterus for obtaining material for analysis. Both procedures are potentially risky and increase chances of miscarriage.
However, this blood test will be safe and non invasive. The proposed blood test, which will require nothing more than a small sample from the pregnant woman, will be able to detect abnormality in the DNA of the fetus. This test will have the potential to be able to detect both Edward and Patau syndromes.
